BACKGROUND We described the main features of an infant diagnosed with facial dysmorphic,language failure,intellectual disability and congenital malformations to strengthen our understanding of the disease.Currently,tr...BACKGROUND We described the main features of an infant diagnosed with facial dysmorphic,language failure,intellectual disability and congenital malformations to strengthen our understanding of the disease.Currently,treatment is only rehabilitation and surgery for cleft lip and palate.CASE SUMMARY The proband was a 2-years-8-months-old girl.Familial history was negative for congenital malformations or intellectual disability.The patient had microcephaly,upward-slanting palpebral fissures,depressed nasal bridge,bulbous nose and bilateral cleft lip and palate.Brain magnetic resonance imaging showed cortical atrophy and band heterotopia.Her motor and intellectual development is delayed.A submicroscopic deletion in 11p13 involving the elongator acetyltransferase complex subunit 4 gene(ELP4)and a loss of heterozygosity in Xq25-q26.3 were detected.CONCLUSION There is no treatment for the ELP4 deletion caused by a submicroscopic 11p3 deletion.We describe a second case of deletion of the ELP4 gene without aniridia,which confirms the association between ELP4 gene with several defects and absence of this ocular defect.Additional clinical data in the deletion of the ELP4 gene as cleft palate,facial dysmorphism,and changes at level brain could be associated to this gene or be part of the effect of the recessives genes involved in the loss of heterozygosity region of Xq25-26.3.展开更多
This paper reviews the current state of knowledge on psychological interventions with empirical evidence of efficacy in treating common psychiatric and behavioral disorders in people with intellectual disability(ID)at...This paper reviews the current state of knowledge on psychological interventions with empirical evidence of efficacy in treating common psychiatric and behavioral disorders in people with intellectual disability(ID)at all stages of their life.We begin with a brief presentation of what is meant by psychiatric and behavioral disorders in this population,along with an explanation of some of the factors that contribute to the increased psychosocial vulnerability of this group to present with these problems.We then conduct a review of empirically supported psychological therapies used to treat psychiatric and behavioral disorders in people with ID.The review is structured around the three generations of therapies:Applied behavior analysis(e.g.,positive behavior support),cognitive behavioral therapies(e.g.,mindfulness-based cognitive therapy),and contextual therapies(e.g.,dialectical behavior therapy).We conclude with some recommendations for professional practice in the fields of ID and psychiatry.展开更多
Reading and writing can be seen as two sides of the same coin but have different demands for the writer and the reader to handle.The aim of this article is to focus on writing,how to create texts when students have in...Reading and writing can be seen as two sides of the same coin but have different demands for the writer and the reader to handle.The aim of this article is to focus on writing,how to create texts when students have intellectual disabilities and how students with intellectual disabilities have improved their writing skills through an intervention study.Writing will be highlighted from different perspectives,mostly about how writing can be supported through a structural way of working.When it comes to reading and reading difficulties,many studies have been done from different aspects of these topics.Most of these studies are among students with typical intellectual development.Studies about writing development and difficulties are fewer in number than studies about reading,but these are also mostly about children with typical development.When it comes to students with intellectual disability,studies about reading are rare and even rarer when it comes to writing.With this article,we will shed light on how writing difficulties can occur in general development and also when students have intellectual disability.The intervention study presented in this article will give some examples of how teachers can support every student’s writing development.展开更多
The molecular and cellular mechanisms by which alcohol produces its deleterious effects on neuronal networks are only now beginning to be understood. This review focused on alcohol-induced neurobiological alterations ...The molecular and cellular mechanisms by which alcohol produces its deleterious effects on neuronal networks are only now beginning to be understood. This review focused on alcohol-induced neurobiological alterations on neuronal network components underlying information processing, for further understanding of intellectual disability related to FASD. Abnormal neurodevelopmental events related to alcohol-damaged fetal brain included neurogenesis inhibition, aberrant migration, impaired differentiation, exacerbated apoptosis, impaired axon outgrowth and branching altering synaptogenesis and synaptic plasticity, abnormal GABAergic interneurons triggering synaptic inhibitory/excitatory imbalance, reduced myelinogenesis causing injured white matter in prefrontal lobe and atrophied corpus callosum compromising interhemispheric information transfer, the whole compromising neuronal network scaffolding which may lead to biased information processing with deficits in executive function. What added to these abnormalities are smaller gray matter and reduced hippocampus, resulting in cognition and memory failures. As a whole, these developmental disorders may underlie intellectual disability related to FASD. In rodents, these neuronal network components matured mainly during the second and third trimesters equivalents of human gestation. Transferability of results from animal to human was also discussed. It was hoped that the understanding of alcohol-induced neuronal networks failure mechanisms during the developing brain may lay a foundation for prospective new treatments and interventions.展开更多
BACKGROUND Burden due to intellectual disability(ID) is only third to the depressive disorders and anxiety disorders in India. This national burden significantly contributes to the global burden of ID and hence one ha...BACKGROUND Burden due to intellectual disability(ID) is only third to the depressive disorders and anxiety disorders in India. This national burden significantly contributes to the global burden of ID and hence one has to think globally and act locally to reduce this burden. At its best the collective prevalence of ID is in the form of narrative reviews. There is an urgent need to document the summary prevalence of ID to enhance further policymaking, national programs and resource allocation.AIM To establish the summary prevalence of ID during the past 60 years in India.METHODS Two researchers independently and electronically searched Pub Med, Scopus, and the Cochrane library from January 1961 to December 2020 using appropriate search terms. Two other investigators extracted the study design, setting, participant characteristics, and measures used to identify ID. Two other researchers appraised the quality of the studies using the Joanna Briggs Institute critical appraisal format for Prevalence Studies. Funnel plot and Egger’s regression test were used to ascertain the publication and small study effect on the prevalence. To evaluate the summary prevalence of ID, we used the random effects model with arcsine square-root transformation. Heterogeneity of I^(2)≥ 50% was considered substantial and we determined the heterogeneity with meta-regression. The analyses were performed using STATA(version 16).RESULTS Nineteen studies were included in the meta-analysis. There was publication bias;the trim-and-fill method was used to further ascertain bias. Concerns with control of confounders and the reliable measure of outcome were noted in the critical appraisal. The summary prevalence of ID was 2% [(95%CI: 2%, 3%);I^(2)= 98%] and the adjusted summary prevalence was 1.4%. Meta-regression demonstrated that age of the participants was statistically significantly related to the prevalence;other factors did not influence the prevalence or heterogeneity.CONCLUSION The summary prevalence of ID in India was established to be 2% taking into consideration the individual prevalence studies over the last six decades. This knowledge should improve the existing disability and mental health policies, national programs and service delivery to reduce the national and global burden associated with ID.展开更多
Background: There is limited knowledge about obsessive-compulsive disorder (OCD) in people with intellectual disabilities (IDs). This paper describes the manifestation of compulsive behaviors associated with OCD at th...Background: There is limited knowledge about obsessive-compulsive disorder (OCD) in people with intellectual disabilities (IDs). This paper describes the manifestation of compulsive behaviors associated with OCD at the behavioral level in people with ID in institutionalized settings. The aim was to gain nuanced insight into appropriate understanding and classification in this specific context, and derive implications for research and practice. Methods: Individual cases of people with ID (n = 7) were studied to assess compulsive symptoms through two days of on-site observation of the person with ID within the institution, guided group discussions (n = 28), and semi-structured interviews with key informants and caregivers of the person with ID (n = 20). Caregiver ratings of the compulsive behavior checklist were compiled. Data were analyzed using qualitative content analysis. Results: All forms of OCD were present. Characteristics of compulsive behaviors in people with ID at the behavioral level included less complex and more obvious compulsive acts, immediate responses, signs of tension, motor restlessness, facial expression changes, repetition, need for predictability, time-consuming behaviors, and aggressive reactions when these acts were interrupted. Some of the compulsive behaviors corresponded to the ICD-11 OCD code 6B20, and others to compulsions as a psychological symptom (MB23.4). Conclusions: OCD may manifest atypically at the behavioral level in people with ID, posing significant challenges for accurate classification due to symptom ambiguity. Follow-up differential diagnostic studies are needed to more accurately identify and differentiate OCD symptoms in people with ID. Further, disorder-specific guidelines for recognizing OCD in people with ID are needed for institutionalized settings without psychiatric-psychotherapeutic expertise.展开更多
Objective: The therapeutic effect of acupuncture is often evaluated based on the experience and judgment of acupuncturists and the subjective feelings of patients. Thus, we investigated the suitability of goal attainm...Objective: The therapeutic effect of acupuncture is often evaluated based on the experience and judgment of acupuncturists and the subjective feelings of patients. Thus, we investigated the suitability of goal attainment scaling(GAS), an objective outcome measurements, to evaluate the responsiveness of children with intellectual disability to acupuncture therapy. Methods: This is an assessor-blinded, single-group cohort study that included 17 children with intellectual disabilities. The therapeutic effect of acupuncture was assessed by the T scores of GAS at four time points during the 3-month treatment. The responsiveness of GAS to acupuncture therapy was measured using the standardized response mean(SRM). Results: Compared with control, the 4-, 8-, and 12-week scores improved significantly after treatment(P < 0.01, P≤0.001,P≤0.001), with significant differences between each month(P < 0.01, P≤0.001, P≤0.001). Furthermore, all periods assessed GAS(to measure the therapeutic effect of acupuncture) showed marked responsiveness(SRMs >0.8). Conclusion: GAS is responsive in evaluating individual changes in the acupuncture treatment of children with intellectual disabilities. It is a feasible tool to match both the needs of children with intellectual disabilities and the clinical characteristics of acupuncture.展开更多
Multiplex Ligation-Dependent Probe Amplification (MLPA) was used to study the integrity of the chromosomes for two WIL2-derived lymphoblastoid cell lines (TK6 and WTK1) in the presence and absence of ionizing radiatio...Multiplex Ligation-Dependent Probe Amplification (MLPA) was used to study the integrity of the chromosomes for two WIL2-derived lymphoblastoid cell lines (TK6 and WTK1) in the presence and absence of ionizing radiation. WTK1 cells contain a p53 mutation, whereas the TK6 cell line has the native p53 tumor-suppressor gene. Each cell line was isolated pre- and post-irradiation (2 and 3 Gy) and analyzed by MLPA. Using probes that target specific regions on chromosomes associated with a distinct subset of microdeletions and microduplications either established or thought to be responsible for intellectual disability or developmental delay, we have demonstrated that WTK1 and TK6 are not impacted in the same way by irradiation. Instead, each cell line presents its own unique MLPA profile. The most notable differences are the appearance of nine unique probe signals only seen in WTK1 cells. These results are important in the study of how different cell lines can be affected in significantly different ways depending on the presence or absence of wild type p53.展开更多
Glutamatergic projection neurons generate sophisticated excitatory circuits to integrate and transmit information among different cortical areas,and between the neocortex and other regions of the brain and spinal cord...Glutamatergic projection neurons generate sophisticated excitatory circuits to integrate and transmit information among different cortical areas,and between the neocortex and other regions of the brain and spinal cord.Appropriate development of cortical projection neurons is regulated by certain essential events such as neural fate determination,proliferation,specification,differentiation,migration,survival,axonogenesis,and synaptogenesis.These processes are precisely regulated in a tempo-spatial manner by intrinsic factors,extrinsic signals,and neural activities.The generation of correct subtypes and precise connections of projection neurons is imperative not only to support the basic cortical functions(such as sensory information integration,motor coordination,and cognition)but also to prevent the onset and progression of neurodevelopmental disorders(such as intellectual disability,autism spectrum disorders,anxiety,and depression).This review mainly focuses on the recent progress of transcriptional regulations on the development and diversity of neocortical projection neurons and the clinical relevance of the failure of transcriptional modulations.展开更多
Bromodomain and plant homeodomain(PHD)finger containing protein 1(Brpf1)is an activator and scaffold protein of a multiunit complex that includes other components involving lysine acetyltransferase(KAT)6A/6B/7.Brpf1,K...Bromodomain and plant homeodomain(PHD)finger containing protein 1(Brpf1)is an activator and scaffold protein of a multiunit complex that includes other components involving lysine acetyltransferase(KAT)6A/6B/7.Brpf1,KAT6A,and KAT6B mutations were identified as the causal genes of neurodevelopmental disorders leading to intellectual disability.Our previous work revealed strong and specific expression of Brpf1 in both the postnatal and adult forebrain,especially the hippocampus,which has essential roles in learning and memory.Here,we hypothesized that Brpf1 plays critical roles in the function of forebrain excitatory neurons,and that its deficiency leads to learning and memory deficits.To test this,we knocked out Brpf1 in forebrain excitatory neurons using CaMKIIa-Cre.We found that Brpf1 deficiency reduced the frequency of miniature excitatory postsynaptic currents and downregulated the expression of genes Pcdhgb1,Slc16a7,Robo3,and Rho,which are related to neural development,synapse function,and memory,thereby damaging spatial and fear memory in mice.These findings help explain the mechanisms of intellectual impairment in patients with BRPF1 mutation.展开更多
Objectives:Family caregivers raising children with severe motor and intellectual disabilities(SMID)experience the enormous burden of care.The concept of family empowerment is one of the important assessment indexes of...Objectives:Family caregivers raising children with severe motor and intellectual disabilities(SMID)experience the enormous burden of care.The concept of family empowerment is one of the important assessment indexes of family nursing from the perspective of providing comprehensive support for these families.The objective of this study was to identify the factors associated with the empowerment of families raising a child with SMID in Japan.Methods:We conducted a nationwide questionnaire survey involving 1659 primary caregivers raising a child with SMID through 89 special schools.We assessed the main outcomes using the Family Empowerment Scale(FES).We then conducted a multiple linear regression analysis to reveal the factors associated with family empowerment.Results:In total,1362 primary caregivers were included in our study.Our results show that factors contributing to high FES scores are higher age of the primary caregiver,higher education,greater recognition of regional support,lower childcare burden,higher utilization of home visit services,higher usage of a childcare institution,higher household income,and stronger family bonding.Conclusion:Healthcare professionals should carefully assess the state of family empowerment of the primary caregivers who are younger and those who have low education,low household income,high childcare burden,and fragile bonding with the family.Second,they should encourage such families to use regional support resources for childcare.That is,policy makers should consider ways to promote home visits and institutional services for the care of children with SMID,aiming especially for the provision of well-coordinated care and services.展开更多
There remain challenges in understanding the aging lives of people with intellectual and developmental disabilities. Method: A cross-sectional comparison of people with and without I/DD was created using China Health ...There remain challenges in understanding the aging lives of people with intellectual and developmental disabilities. Method: A cross-sectional comparison of people with and without I/DD was created using China Health and Retirement Longitudinal Study (CHARLS). A definition of I/DD was established, three samples were created: those with an assigned/described intellectual and developmental disability prior to age 22 years;those with similar impairments at and after age 22 years;and those in the population without an assigned/described impairment. Findings: Those with I/DD appeared to have greater health needs on initial analysis. People with an impairment similar to I/DD but occurring after age 22 years had the same or greater needs in subsequent analyses. Both groups had greater needs than those with no identified disability. Discussion: There must be greater efforts to discover those with I/DD who are already in existing datasets, greater attention to the full range of lives led by people with I/DD and inclusion of data from a broader range of countries.展开更多
Objective:Family plays an important role in taking care of children with intellectual disabilities(IDs).Resilience supports coping strategies for caregivers with their children caring.However,factors influencing the r...Objective:Family plays an important role in taking care of children with intellectual disabilities(IDs).Resilience supports coping strategies for caregivers with their children caring.However,factors influencing the resilience of caregivers with ID in Thailand are yet to be identified.Therefore,the aim of this study was to identify the predictors of resilience in caregivers of children with moderate to severe ID.Methods:A cross-sectional study was implemented in caregivers of children with ID aged 18 years and older who had children diagnosed with ID aged 6–18 years and classified as moderate to severe ID.Descriptive statistic and multiple linear regression were used for data analysis.Results:The study sample consisted of 85 caregivers who took care of their children older than 5 years(95.30%).Depression,social support,cognitive function,and stigma could predict the resilience(F[4,80]=26.79,P<0.001)and explain the variability of resilience by 57.3%.Conclusions:Caregivers have to take care of their children for a long period,which could develop a burden to the caregivers.The resilience and influencing factors should be monitored and managed by developing a campaign to promote caregivers’health and well-being.展开更多
There are well known gaps related to health care service and public health interventions for people with Intellectual Disabilities (ID), but there is still lack of research information of what nurses can do to reducin...There are well known gaps related to health care service and public health interventions for people with Intellectual Disabilities (ID), but there is still lack of research information of what nurses can do to reducing health disparities of persons with ID. The present study aimed at exploring the views of people with ID about a healthy lifestyle, exercise, and to take part in a health promotion program. A qualitative method was an appropriate method for capturing the informants’ points of view. Participants were adults with intellectual disability who would be able to give their consent verbally and in written form. Women (n = 7) and men (n = 6). Data were collected from focus group interviews and analysed according to a qualitative content analysis of the tape-recorded and verbatim transcribed interviews. The participants took part in four workshops about healthy food, and ten physical activities addressing the connection to physical, social and emotional health. The results of the focus group interviews show that participants have knowledge about the importance of a healthy lifestyle for good health including physical activity and healthy food. Participants also describe social interaction and self-determination as important aspects in their life. It could then be concluded that the health promotion program result point at consciousness about a healthy lifestyle. There is still lack of research information of what public health nurses can do to reducing health disparities of persons with ID. Public health nurses work in community-based services and therefore they also might support persons with ID through health intervention programs.展开更多
Background: About 70% of Japanese children with severe motor and intellectual disabilities (SMID) live at home, and the number is increasing. Family members have an enormous burden of daily physical care for these chi...Background: About 70% of Japanese children with severe motor and intellectual disabilities (SMID) live at home, and the number is increasing. Family members have an enormous burden of daily physical care for these children. A top priority is to understand quality of life (QoL), family function, and family empowerment to effectively support these families. We aimed to assess current living situations of families with a SMID child, and to reveal the relationships between QoL, family function, and family empowerment. Methods: Sixty-five family members from 34 families with a SMID child participated in this study. We assessed 5 parameters using the Japanese versions of the following instruments: World Health Organization Quality of Life 26 (WHOQOL26), Kinder Lebensqualitats Fragebogen (KINDL), Family Assessment Device (FAD), Family Adaptability and Cohesion Evaluation Scale KG-4 (FACESKG-4), and Family Empowerment Scale (FES). Correlation and multiple regression analyses were conducted;QoL score was the objective variable. Results: Participants included 54 parents (34 mothers, 20 fathers) and 11 siblings. The mean age of SMID children was 10.4 ± 5.03 years. Twenty-two children needed multiple types of medical care. The mean age of parents and siblings was 41.5 ± 6.16 years and 15.5 ± 2.35 years, respectively. The mean QoL score (3.28 ± 0.5) was similar to the Japanese average. The mean KINDL score (77.2 ± 12.1) was higher than those of previous studies. The mean FAD score was 1.97 ± 0.32. For FACEKG-4, the score of adaptability was correlated with WHOQOL score (r = 0.459, p < 0.05). The mean score of FES was 113.6 ± 14. As the result of multiple regression analysis, lower family FAD scores ([sb] = ?0.61, p < 0.01) indicated higher family function and greater age of participants (sb = 0.495, p < 0.01) was correlated with higher WHOQOL scores (F = 15.208, p < 0.01). Conclusions: Our results indicated that the individual QoL depended on the age of participants (equals the years of experience caring for a SMID child) and the recognition of family function as a whole. Thus, to improve family members’ QoL, we should focus on individuals and also approach the family as a whole.展开更多
In Japan, it is common practice to involve grandparents in the care of children with severe motor and intellectual disabilities (SMID), as it may be difficult for nuclear families to handle such children by themselves...In Japan, it is common practice to involve grandparents in the care of children with severe motor and intellectual disabilities (SMID), as it may be difficult for nuclear families to handle such children by themselves. This study aimed to explore and describe the process through which the grandparents of children with SMID may be involved in their upbringing. Data were obtained via semi-structured interviews with 13 grandparents who had a grandchild with SMID. The collected data were examined using Yasuhito Kinoshita’s modified grounded theory approach. Altogether, 11 categories were identified from 29 themes. The results revealed two broad patterns concerning the nature of the grandparents’ involvement and their definition of grandparenthood in the context of raising a grandchild with SMID. In one process, grandparents supported the child’s family. They also learned to relate to the child and their family, despite experiencing a lack of responsiveness from the child initially. This ultimately resulted in them being inspired by their grandchild. In the other process, the grandparents left the care of their grandchild to the child’s family and chose to monitor the child’s welfare indirectly. In both the processes, the level of involvement was determined by the extent to which the family chose to ask grandparents for help. The study’s findings can be used to identify the kind of support that grandparents of children with SMID require while highlighting the role of considering the needs and intentions of the children’s families.展开更多
Purpose: In hospitalized patients with severe motor and intellectual disabilities (SMID), we analyzed the association of the SMID class to factors such as the prevalence of epilepsy, frequency of seizures and number o...Purpose: In hospitalized patients with severe motor and intellectual disabilities (SMID), we analyzed the association of the SMID class to factors such as the prevalence of epilepsy, frequency of seizures and number of concomitantly used anti-epileptic drugs (AEDs), and evaluated the usefulness of addition of the new AEDs (gabapentin, topiramate, lamotrigine and levetiracetam) to the treatment regimen. Results: The prevalence of epilepsy in the study population was about 60%. There were 39.5% who were free of epileptic seizures during the 6-year survey period and remained well-controlled with medication. As the SMID increased in severity, the frequency of seizures increased, the number of concomitantly used AEDs increased, and the tendency towards addition of new AEDs became more marked. About the use situation of new AED and old AED, this comparison revealed a tendency towards addition of a new AED when the seizures were poorly controlled in response to concomitant use of multiple old AEDs. The frequency of seizures and the number of concomitantly used AEDs were higher in patients with SMID of high severity than in those with SMID of low severity. Analysis of the time-course of the frequency of seizures before and after the addition of new AEDs revealed a significant reduction in the frequency of seizures following the addition of the new AEDs (P > 0.001). Conclusions: These results suggest that the new AEDs are useful in the management of SMID-associated epilepsy, because of their effect of reducing the frequency of SMID-associated seizures and their high tolerability.展开更多
This paper aims to verify the family support situation for primary school children with intellectual disabilities learning in regular class and to explore various educational strategies to promote their development.A ...This paper aims to verify the family support situation for primary school children with intellectual disabilities learning in regular class and to explore various educational strategies to promote their development.A self-made questionnaire was used in this survey,and the parents of 380 intellectual disabled students were the subjects of this survey.It turns out that the overall family support for intellectual disabled children learning in regular class in China is good,but it is affected by the degree of obstacles.Factors such as grade,gender,and parental education had no significant effect on family support.It is the shared responsibility of the government,schools,and parents to promote the level of family support.Governments at all levels must implement family support projects,schools must carry out family education guidance to impart scientific parenting knowledge,and parents must take note of their own responsibilities,so as to promote the physical and mental development of children with intellectual disabilities.展开更多
Aicardi syndrome is a rare neurological disorder diagnosed at an early age with the help from radiology imaging. Therefore, the sooner it is diagnosed, the sooner the interventions can be beneficial. However, as with ...Aicardi syndrome is a rare neurological disorder diagnosed at an early age with the help from radiology imaging. Therefore, the sooner it is diagnosed, the sooner the interventions can be beneficial. However, as with mood disorders, it too has a spectrum of symptoms and can cause delays in treatments. In the following case report, a 26-year-old female’s neurological symptoms were misdiagnosed as symptoms of Schizophrenia. Through this case report, the goal is to highlight the pathway to diagnose and treat an individual.展开更多
The number of children with Severe Motor and Intellectual Disabilities (SMID) receiving medical treatment/recovering at home is rising yearly. Although benefits of this care are emphasized, the stress and duties of fa...The number of children with Severe Motor and Intellectual Disabilities (SMID) receiving medical treatment/recovering at home is rising yearly. Although benefits of this care are emphasized, the stress and duties of family members in the household are extremely great, especially because Japan is becoming a society of nuclear families. In this study, we described the lifestyles of nuclear families providing in-home medical care for children with SMID, focusing on family members’ roles. Roles of mothers, fathers, and siblings of children with SMID were summarized from semi-structured inter-views. As a result, for “the roles of each family member living with a child with SMID”, mothers had five roles, fathers seven, and siblings five. For “the hopes of each family member living with a child with SMID”, parents desired the whole family collaboration in care for children with SMID, and as caregivers, parents’ common thoughts included wanting siblings in order to help care for the child with SMID and wanting siblings to treasure their own lives. Siblings wanted their mother to have some time for rest and expected their fathers to have two main roles. They also expected their grandparents and other siblings to fulfill roles.展开更多
基金Supported by PAEP,2018 and PAPIIT IN219419,DGAPA,Universidad Nacional Autónoma de México,No.IN219419.
文摘BACKGROUND We described the main features of an infant diagnosed with facial dysmorphic,language failure,intellectual disability and congenital malformations to strengthen our understanding of the disease.Currently,treatment is only rehabilitation and surgery for cleft lip and palate.CASE SUMMARY The proband was a 2-years-8-months-old girl.Familial history was negative for congenital malformations or intellectual disability.The patient had microcephaly,upward-slanting palpebral fissures,depressed nasal bridge,bulbous nose and bilateral cleft lip and palate.Brain magnetic resonance imaging showed cortical atrophy and band heterotopia.Her motor and intellectual development is delayed.A submicroscopic deletion in 11p13 involving the elongator acetyltransferase complex subunit 4 gene(ELP4)and a loss of heterozygosity in Xq25-q26.3 were detected.CONCLUSION There is no treatment for the ELP4 deletion caused by a submicroscopic 11p3 deletion.We describe a second case of deletion of the ELP4 gene without aniridia,which confirms the association between ELP4 gene with several defects and absence of this ocular defect.Additional clinical data in the deletion of the ELP4 gene as cleft palate,facial dysmorphism,and changes at level brain could be associated to this gene or be part of the effect of the recessives genes involved in the loss of heterozygosity region of Xq25-26.3.
基金Supported by Ministry of Science,Innovation and Universities,and the State Research Agency,No.PID2019-105737RBI00/AEI/10.13039/501100011033。
文摘This paper reviews the current state of knowledge on psychological interventions with empirical evidence of efficacy in treating common psychiatric and behavioral disorders in people with intellectual disability(ID)at all stages of their life.We begin with a brief presentation of what is meant by psychiatric and behavioral disorders in this population,along with an explanation of some of the factors that contribute to the increased psychosocial vulnerability of this group to present with these problems.We then conduct a review of empirically supported psychological therapies used to treat psychiatric and behavioral disorders in people with ID.The review is structured around the three generations of therapies:Applied behavior analysis(e.g.,positive behavior support),cognitive behavioral therapies(e.g.,mindfulness-based cognitive therapy),and contextual therapies(e.g.,dialectical behavior therapy).We conclude with some recommendations for professional practice in the fields of ID and psychiatry.
文摘Reading and writing can be seen as two sides of the same coin but have different demands for the writer and the reader to handle.The aim of this article is to focus on writing,how to create texts when students have intellectual disabilities and how students with intellectual disabilities have improved their writing skills through an intervention study.Writing will be highlighted from different perspectives,mostly about how writing can be supported through a structural way of working.When it comes to reading and reading difficulties,many studies have been done from different aspects of these topics.Most of these studies are among students with typical intellectual development.Studies about writing development and difficulties are fewer in number than studies about reading,but these are also mostly about children with typical development.When it comes to students with intellectual disability,studies about reading are rare and even rarer when it comes to writing.With this article,we will shed light on how writing difficulties can occur in general development and also when students have intellectual disability.The intervention study presented in this article will give some examples of how teachers can support every student’s writing development.
文摘The molecular and cellular mechanisms by which alcohol produces its deleterious effects on neuronal networks are only now beginning to be understood. This review focused on alcohol-induced neurobiological alterations on neuronal network components underlying information processing, for further understanding of intellectual disability related to FASD. Abnormal neurodevelopmental events related to alcohol-damaged fetal brain included neurogenesis inhibition, aberrant migration, impaired differentiation, exacerbated apoptosis, impaired axon outgrowth and branching altering synaptogenesis and synaptic plasticity, abnormal GABAergic interneurons triggering synaptic inhibitory/excitatory imbalance, reduced myelinogenesis causing injured white matter in prefrontal lobe and atrophied corpus callosum compromising interhemispheric information transfer, the whole compromising neuronal network scaffolding which may lead to biased information processing with deficits in executive function. What added to these abnormalities are smaller gray matter and reduced hippocampus, resulting in cognition and memory failures. As a whole, these developmental disorders may underlie intellectual disability related to FASD. In rodents, these neuronal network components matured mainly during the second and third trimesters equivalents of human gestation. Transferability of results from animal to human was also discussed. It was hoped that the understanding of alcohol-induced neuronal networks failure mechanisms during the developing brain may lay a foundation for prospective new treatments and interventions.
文摘BACKGROUND Burden due to intellectual disability(ID) is only third to the depressive disorders and anxiety disorders in India. This national burden significantly contributes to the global burden of ID and hence one has to think globally and act locally to reduce this burden. At its best the collective prevalence of ID is in the form of narrative reviews. There is an urgent need to document the summary prevalence of ID to enhance further policymaking, national programs and resource allocation.AIM To establish the summary prevalence of ID during the past 60 years in India.METHODS Two researchers independently and electronically searched Pub Med, Scopus, and the Cochrane library from January 1961 to December 2020 using appropriate search terms. Two other investigators extracted the study design, setting, participant characteristics, and measures used to identify ID. Two other researchers appraised the quality of the studies using the Joanna Briggs Institute critical appraisal format for Prevalence Studies. Funnel plot and Egger’s regression test were used to ascertain the publication and small study effect on the prevalence. To evaluate the summary prevalence of ID, we used the random effects model with arcsine square-root transformation. Heterogeneity of I^(2)≥ 50% was considered substantial and we determined the heterogeneity with meta-regression. The analyses were performed using STATA(version 16).RESULTS Nineteen studies were included in the meta-analysis. There was publication bias;the trim-and-fill method was used to further ascertain bias. Concerns with control of confounders and the reliable measure of outcome were noted in the critical appraisal. The summary prevalence of ID was 2% [(95%CI: 2%, 3%);I^(2)= 98%] and the adjusted summary prevalence was 1.4%. Meta-regression demonstrated that age of the participants was statistically significantly related to the prevalence;other factors did not influence the prevalence or heterogeneity.CONCLUSION The summary prevalence of ID in India was established to be 2% taking into consideration the individual prevalence studies over the last six decades. This knowledge should improve the existing disability and mental health policies, national programs and service delivery to reduce the national and global burden associated with ID.
文摘Background: There is limited knowledge about obsessive-compulsive disorder (OCD) in people with intellectual disabilities (IDs). This paper describes the manifestation of compulsive behaviors associated with OCD at the behavioral level in people with ID in institutionalized settings. The aim was to gain nuanced insight into appropriate understanding and classification in this specific context, and derive implications for research and practice. Methods: Individual cases of people with ID (n = 7) were studied to assess compulsive symptoms through two days of on-site observation of the person with ID within the institution, guided group discussions (n = 28), and semi-structured interviews with key informants and caregivers of the person with ID (n = 20). Caregiver ratings of the compulsive behavior checklist were compiled. Data were analyzed using qualitative content analysis. Results: All forms of OCD were present. Characteristics of compulsive behaviors in people with ID at the behavioral level included less complex and more obvious compulsive acts, immediate responses, signs of tension, motor restlessness, facial expression changes, repetition, need for predictability, time-consuming behaviors, and aggressive reactions when these acts were interrupted. Some of the compulsive behaviors corresponded to the ICD-11 OCD code 6B20, and others to compulsions as a psychological symptom (MB23.4). Conclusions: OCD may manifest atypically at the behavioral level in people with ID, posing significant challenges for accurate classification due to symptom ambiguity. Follow-up differential diagnostic studies are needed to more accurately identify and differentiate OCD symptoms in people with ID. Further, disorder-specific guidelines for recognizing OCD in people with ID are needed for institutionalized settings without psychiatric-psychotherapeutic expertise.
基金supported by the National Natural Science Foundation of China(No.82074521)。
文摘Objective: The therapeutic effect of acupuncture is often evaluated based on the experience and judgment of acupuncturists and the subjective feelings of patients. Thus, we investigated the suitability of goal attainment scaling(GAS), an objective outcome measurements, to evaluate the responsiveness of children with intellectual disability to acupuncture therapy. Methods: This is an assessor-blinded, single-group cohort study that included 17 children with intellectual disabilities. The therapeutic effect of acupuncture was assessed by the T scores of GAS at four time points during the 3-month treatment. The responsiveness of GAS to acupuncture therapy was measured using the standardized response mean(SRM). Results: Compared with control, the 4-, 8-, and 12-week scores improved significantly after treatment(P < 0.01, P≤0.001,P≤0.001), with significant differences between each month(P < 0.01, P≤0.001, P≤0.001). Furthermore, all periods assessed GAS(to measure the therapeutic effect of acupuncture) showed marked responsiveness(SRMs >0.8). Conclusion: GAS is responsive in evaluating individual changes in the acupuncture treatment of children with intellectual disabilities. It is a feasible tool to match both the needs of children with intellectual disabilities and the clinical characteristics of acupuncture.
文摘Multiplex Ligation-Dependent Probe Amplification (MLPA) was used to study the integrity of the chromosomes for two WIL2-derived lymphoblastoid cell lines (TK6 and WTK1) in the presence and absence of ionizing radiation. WTK1 cells contain a p53 mutation, whereas the TK6 cell line has the native p53 tumor-suppressor gene. Each cell line was isolated pre- and post-irradiation (2 and 3 Gy) and analyzed by MLPA. Using probes that target specific regions on chromosomes associated with a distinct subset of microdeletions and microduplications either established or thought to be responsible for intellectual disability or developmental delay, we have demonstrated that WTK1 and TK6 are not impacted in the same way by irradiation. Instead, each cell line presents its own unique MLPA profile. The most notable differences are the appearance of nine unique probe signals only seen in WTK1 cells. These results are important in the study of how different cell lines can be affected in significantly different ways depending on the presence or absence of wild type p53.
基金supported by Guangdong Provincial Basic and Applied Basic Research Fund,No.2021A1515011299(to KT)。
文摘Glutamatergic projection neurons generate sophisticated excitatory circuits to integrate and transmit information among different cortical areas,and between the neocortex and other regions of the brain and spinal cord.Appropriate development of cortical projection neurons is regulated by certain essential events such as neural fate determination,proliferation,specification,differentiation,migration,survival,axonogenesis,and synaptogenesis.These processes are precisely regulated in a tempo-spatial manner by intrinsic factors,extrinsic signals,and neural activities.The generation of correct subtypes and precise connections of projection neurons is imperative not only to support the basic cortical functions(such as sensory information integration,motor coordination,and cognition)but also to prevent the onset and progression of neurodevelopmental disorders(such as intellectual disability,autism spectrum disorders,anxiety,and depression).This review mainly focuses on the recent progress of transcriptional regulations on the development and diversity of neocortical projection neurons and the clinical relevance of the failure of transcriptional modulations.
基金supported by the National Natural Science Foundation of China,No. 81771228Shanghai Association of Science and Technology,Nos. 22WZ2501700 and 23WZ2504500 (all to LY)
文摘Bromodomain and plant homeodomain(PHD)finger containing protein 1(Brpf1)is an activator and scaffold protein of a multiunit complex that includes other components involving lysine acetyltransferase(KAT)6A/6B/7.Brpf1,KAT6A,and KAT6B mutations were identified as the causal genes of neurodevelopmental disorders leading to intellectual disability.Our previous work revealed strong and specific expression of Brpf1 in both the postnatal and adult forebrain,especially the hippocampus,which has essential roles in learning and memory.Here,we hypothesized that Brpf1 plays critical roles in the function of forebrain excitatory neurons,and that its deficiency leads to learning and memory deficits.To test this,we knocked out Brpf1 in forebrain excitatory neurons using CaMKIIa-Cre.We found that Brpf1 deficiency reduced the frequency of miniature excitatory postsynaptic currents and downregulated the expression of genes Pcdhgb1,Slc16a7,Robo3,and Rho,which are related to neural development,synapse function,and memory,thereby damaging spatial and fear memory in mice.These findings help explain the mechanisms of intellectual impairment in patients with BRPF1 mutation.
基金This study was funded by Grant-in-Aid for Scientific Research(15K15846 and 18H03093).
文摘Objectives:Family caregivers raising children with severe motor and intellectual disabilities(SMID)experience the enormous burden of care.The concept of family empowerment is one of the important assessment indexes of family nursing from the perspective of providing comprehensive support for these families.The objective of this study was to identify the factors associated with the empowerment of families raising a child with SMID in Japan.Methods:We conducted a nationwide questionnaire survey involving 1659 primary caregivers raising a child with SMID through 89 special schools.We assessed the main outcomes using the Family Empowerment Scale(FES).We then conducted a multiple linear regression analysis to reveal the factors associated with family empowerment.Results:In total,1362 primary caregivers were included in our study.Our results show that factors contributing to high FES scores are higher age of the primary caregiver,higher education,greater recognition of regional support,lower childcare burden,higher utilization of home visit services,higher usage of a childcare institution,higher household income,and stronger family bonding.Conclusion:Healthcare professionals should carefully assess the state of family empowerment of the primary caregivers who are younger and those who have low education,low household income,high childcare burden,and fragile bonding with the family.Second,they should encourage such families to use regional support resources for childcare.That is,policy makers should consider ways to promote home visits and institutional services for the care of children with SMID,aiming especially for the provision of well-coordinated care and services.
文摘There remain challenges in understanding the aging lives of people with intellectual and developmental disabilities. Method: A cross-sectional comparison of people with and without I/DD was created using China Health and Retirement Longitudinal Study (CHARLS). A definition of I/DD was established, three samples were created: those with an assigned/described intellectual and developmental disability prior to age 22 years;those with similar impairments at and after age 22 years;and those in the population without an assigned/described impairment. Findings: Those with I/DD appeared to have greater health needs on initial analysis. People with an impairment similar to I/DD but occurring after age 22 years had the same or greater needs in subsequent analyses. Both groups had greater needs than those with no identified disability. Discussion: There must be greater efforts to discover those with I/DD who are already in existing datasets, greater attention to the full range of lives led by people with I/DD and inclusion of data from a broader range of countries.
文摘Objective:Family plays an important role in taking care of children with intellectual disabilities(IDs).Resilience supports coping strategies for caregivers with their children caring.However,factors influencing the resilience of caregivers with ID in Thailand are yet to be identified.Therefore,the aim of this study was to identify the predictors of resilience in caregivers of children with moderate to severe ID.Methods:A cross-sectional study was implemented in caregivers of children with ID aged 18 years and older who had children diagnosed with ID aged 6–18 years and classified as moderate to severe ID.Descriptive statistic and multiple linear regression were used for data analysis.Results:The study sample consisted of 85 caregivers who took care of their children older than 5 years(95.30%).Depression,social support,cognitive function,and stigma could predict the resilience(F[4,80]=26.79,P<0.001)and explain the variability of resilience by 57.3%.Conclusions:Caregivers have to take care of their children for a long period,which could develop a burden to the caregivers.The resilience and influencing factors should be monitored and managed by developing a campaign to promote caregivers’health and well-being.
文摘There are well known gaps related to health care service and public health interventions for people with Intellectual Disabilities (ID), but there is still lack of research information of what nurses can do to reducing health disparities of persons with ID. The present study aimed at exploring the views of people with ID about a healthy lifestyle, exercise, and to take part in a health promotion program. A qualitative method was an appropriate method for capturing the informants’ points of view. Participants were adults with intellectual disability who would be able to give their consent verbally and in written form. Women (n = 7) and men (n = 6). Data were collected from focus group interviews and analysed according to a qualitative content analysis of the tape-recorded and verbatim transcribed interviews. The participants took part in four workshops about healthy food, and ten physical activities addressing the connection to physical, social and emotional health. The results of the focus group interviews show that participants have knowledge about the importance of a healthy lifestyle for good health including physical activity and healthy food. Participants also describe social interaction and self-determination as important aspects in their life. It could then be concluded that the health promotion program result point at consciousness about a healthy lifestyle. There is still lack of research information of what public health nurses can do to reducing health disparities of persons with ID. Public health nurses work in community-based services and therefore they also might support persons with ID through health intervention programs.
文摘Background: About 70% of Japanese children with severe motor and intellectual disabilities (SMID) live at home, and the number is increasing. Family members have an enormous burden of daily physical care for these children. A top priority is to understand quality of life (QoL), family function, and family empowerment to effectively support these families. We aimed to assess current living situations of families with a SMID child, and to reveal the relationships between QoL, family function, and family empowerment. Methods: Sixty-five family members from 34 families with a SMID child participated in this study. We assessed 5 parameters using the Japanese versions of the following instruments: World Health Organization Quality of Life 26 (WHOQOL26), Kinder Lebensqualitats Fragebogen (KINDL), Family Assessment Device (FAD), Family Adaptability and Cohesion Evaluation Scale KG-4 (FACESKG-4), and Family Empowerment Scale (FES). Correlation and multiple regression analyses were conducted;QoL score was the objective variable. Results: Participants included 54 parents (34 mothers, 20 fathers) and 11 siblings. The mean age of SMID children was 10.4 ± 5.03 years. Twenty-two children needed multiple types of medical care. The mean age of parents and siblings was 41.5 ± 6.16 years and 15.5 ± 2.35 years, respectively. The mean QoL score (3.28 ± 0.5) was similar to the Japanese average. The mean KINDL score (77.2 ± 12.1) was higher than those of previous studies. The mean FAD score was 1.97 ± 0.32. For FACEKG-4, the score of adaptability was correlated with WHOQOL score (r = 0.459, p < 0.05). The mean score of FES was 113.6 ± 14. As the result of multiple regression analysis, lower family FAD scores ([sb] = ?0.61, p < 0.01) indicated higher family function and greater age of participants (sb = 0.495, p < 0.01) was correlated with higher WHOQOL scores (F = 15.208, p < 0.01). Conclusions: Our results indicated that the individual QoL depended on the age of participants (equals the years of experience caring for a SMID child) and the recognition of family function as a whole. Thus, to improve family members’ QoL, we should focus on individuals and also approach the family as a whole.
文摘In Japan, it is common practice to involve grandparents in the care of children with severe motor and intellectual disabilities (SMID), as it may be difficult for nuclear families to handle such children by themselves. This study aimed to explore and describe the process through which the grandparents of children with SMID may be involved in their upbringing. Data were obtained via semi-structured interviews with 13 grandparents who had a grandchild with SMID. The collected data were examined using Yasuhito Kinoshita’s modified grounded theory approach. Altogether, 11 categories were identified from 29 themes. The results revealed two broad patterns concerning the nature of the grandparents’ involvement and their definition of grandparenthood in the context of raising a grandchild with SMID. In one process, grandparents supported the child’s family. They also learned to relate to the child and their family, despite experiencing a lack of responsiveness from the child initially. This ultimately resulted in them being inspired by their grandchild. In the other process, the grandparents left the care of their grandchild to the child’s family and chose to monitor the child’s welfare indirectly. In both the processes, the level of involvement was determined by the extent to which the family chose to ask grandparents for help. The study’s findings can be used to identify the kind of support that grandparents of children with SMID require while highlighting the role of considering the needs and intentions of the children’s families.
文摘Purpose: In hospitalized patients with severe motor and intellectual disabilities (SMID), we analyzed the association of the SMID class to factors such as the prevalence of epilepsy, frequency of seizures and number of concomitantly used anti-epileptic drugs (AEDs), and evaluated the usefulness of addition of the new AEDs (gabapentin, topiramate, lamotrigine and levetiracetam) to the treatment regimen. Results: The prevalence of epilepsy in the study population was about 60%. There were 39.5% who were free of epileptic seizures during the 6-year survey period and remained well-controlled with medication. As the SMID increased in severity, the frequency of seizures increased, the number of concomitantly used AEDs increased, and the tendency towards addition of new AEDs became more marked. About the use situation of new AED and old AED, this comparison revealed a tendency towards addition of a new AED when the seizures were poorly controlled in response to concomitant use of multiple old AEDs. The frequency of seizures and the number of concomitantly used AEDs were higher in patients with SMID of high severity than in those with SMID of low severity. Analysis of the time-course of the frequency of seizures before and after the addition of new AEDs revealed a significant reduction in the frequency of seizures following the addition of the new AEDs (P > 0.001). Conclusions: These results suggest that the new AEDs are useful in the management of SMID-associated epilepsy, because of their effect of reducing the frequency of SMID-associated seizures and their high tolerability.
基金supported by The Final Achievement of the 13th Five-Year Plan of Philosophy and Social Sciences in Guangdong Province in 2020“Research on the Relationship Between Family Support,School Support and School Adaptation of Regular Primary School Students(No.:GD20XJY27).
文摘This paper aims to verify the family support situation for primary school children with intellectual disabilities learning in regular class and to explore various educational strategies to promote their development.A self-made questionnaire was used in this survey,and the parents of 380 intellectual disabled students were the subjects of this survey.It turns out that the overall family support for intellectual disabled children learning in regular class in China is good,but it is affected by the degree of obstacles.Factors such as grade,gender,and parental education had no significant effect on family support.It is the shared responsibility of the government,schools,and parents to promote the level of family support.Governments at all levels must implement family support projects,schools must carry out family education guidance to impart scientific parenting knowledge,and parents must take note of their own responsibilities,so as to promote the physical and mental development of children with intellectual disabilities.
文摘Aicardi syndrome is a rare neurological disorder diagnosed at an early age with the help from radiology imaging. Therefore, the sooner it is diagnosed, the sooner the interventions can be beneficial. However, as with mood disorders, it too has a spectrum of symptoms and can cause delays in treatments. In the following case report, a 26-year-old female’s neurological symptoms were misdiagnosed as symptoms of Schizophrenia. Through this case report, the goal is to highlight the pathway to diagnose and treat an individual.
文摘The number of children with Severe Motor and Intellectual Disabilities (SMID) receiving medical treatment/recovering at home is rising yearly. Although benefits of this care are emphasized, the stress and duties of family members in the household are extremely great, especially because Japan is becoming a society of nuclear families. In this study, we described the lifestyles of nuclear families providing in-home medical care for children with SMID, focusing on family members’ roles. Roles of mothers, fathers, and siblings of children with SMID were summarized from semi-structured inter-views. As a result, for “the roles of each family member living with a child with SMID”, mothers had five roles, fathers seven, and siblings five. For “the hopes of each family member living with a child with SMID”, parents desired the whole family collaboration in care for children with SMID, and as caregivers, parents’ common thoughts included wanting siblings in order to help care for the child with SMID and wanting siblings to treasure their own lives. Siblings wanted their mother to have some time for rest and expected their fathers to have two main roles. They also expected their grandparents and other siblings to fulfill roles.
