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Community Mental Health Journal Aug 2023People with intellectual and developmental disabilities (IDD) have higher incidences of mental health conditions and behavioral support needs than people without IDD but...
People with intellectual and developmental disabilities (IDD) have higher incidences of mental health conditions and behavioral support needs than people without IDD but may not receive needed care from community providers. We examined rates of co-occurring conditions in a representative sample of adults with IDD who use state funded services in Virginia. Using data from two datasets, we identified four categories of mental health and behavioral conditions. We used these categories to examine differences in individual- and system-level factors in people with and without co-occurring conditions. We found high rates of co-occurring conditions in our sample. We found important disability factors and system-level characteristics that were associated with having a diagnosed mental health condition or behavioral support needs. Differing patterns of diagnosis and treatment for co-occurring conditions suggests more work needs to be done to support people with IDD and co-occurring mental health conditions living in the community.
Topics: Adult; Humans; Child; Developmental Disabilities; Intellectual Disability; Mental Health; Virginia
PubMed: 36739327
DOI: 10.1007/s10597-023-01091-4 -
BJOG : An International Journal of... Dec 2023To investigate whether mild neonatal hypoxic ischaemic encephalopathy (HIE) in term born infants is associated with cerebral palsy, epilepsy, mental retardation and...
OBJECTIVE
To investigate whether mild neonatal hypoxic ischaemic encephalopathy (HIE) in term born infants is associated with cerebral palsy, epilepsy, mental retardation and death up to 6 years of age.
DESIGN
Population-based cohort study.
SETTING
Sweden, 2009-2015.
POPULATION
Live term born infants without congenital malformations or chromosomal abnormalities (n = 505 075).
METHODS
Birth and health data were retrieved from Swedish national health and quality registers. Mild HIE was identified by diagnosis in either the Swedish Medical Birth Register or the Swedish Neonatal Quality Register. Cox proportional hazards regression was used to estimate hazard ratios (HRs) with 95% confidence intervals (CIs).
MAIN OUTCOME MEASURES
A composite of the outcomes cerebral palsy, epilepsy, mental retardation and death up to 6 years of age.
RESULTS
Median follow-up time was 3.3 years after birth. Of 414 infants diagnosed with mild HIE, 17 were classified according to the composite outcome and incidence rates were 12.6 and 2.9 per 1000 child-years in infants with and without HIE respectively. Infants with mild HIE was four times as likely to be diagnosed with the composite outcome (HR 4.42, 95% CI 2.75-7.12) compared with infants without HIE. When analysed separately, associations were found with cerebral palsy (HR 21.50, 95% CI 9.59-48.19) and death (HR 19.10, 95% CI 7.90-46.21). HRs remained essentially unchanged after adjustment for covariates.
CONCLUSIONS
Mild neonatal HIE was associated with neurological morbidity and mortality in childhood. Challenges include identifying infants who may develop morbidity and how to prevent adverse outcomes.
Topics: Infant, Newborn; Infant; Humans; Hypoxia-Ischemia, Brain; Cerebral Palsy; Cohort Studies; Intellectual Disability; Epilepsy
PubMed: 37199188
DOI: 10.1111/1471-0528.17533 -
Emerging Topics in Life Sciences Dec 2023Neurodevelopmental disorders (NDDs) encompass a diverse group of disorders characterised by impaired cognitive abilities and developmental challenges. Short tandem... (Review)
Review
Neurodevelopmental disorders (NDDs) encompass a diverse group of disorders characterised by impaired cognitive abilities and developmental challenges. Short tandem repeats (STRs), repetitive DNA sequences found throughout the human genome, have emerged as potential contributors to NDDs. Specifically, the CGG trinucleotide repeat has been implicated in a wide range of NDDs, including Fragile X Syndrome (FXS), the most common inherited form of intellectual disability and autism. This review focuses on CGG STR expansions associated with NDDs and their impact on gene expression through repeat expansion-mediated epigenetic silencing. We explore the molecular mechanisms underlying CGG-repeat expansion and the resulting epigenetic modifications, such as DNA hypermethylation and gene silencing. Additionally, we discuss the involvement of other CGG STRs in neurodevelopmental diseases. Several examples, including FMR1, AFF2, AFF3, XYLT1, FRA10AC1, CBL, and DIP2B, highlight the complex relationship between CGG STR expansions and NDDs. Furthermore, recent advancements in this field are highlighted, shedding light on potential future research directions. Understanding the role of STRs, particularly CGG-repeats, in NDDs has the potential to uncover novel diagnostic and therapeutic strategies for these challenging disorders.
Topics: Humans; Trinucleotide Repeat Expansion; Fragile X Syndrome; Trinucleotide Repeats; DNA Methylation; Intellectual Disability; Fragile X Mental Retardation Protein; Nerve Tissue Proteins
PubMed: 37768318
DOI: 10.1042/ETLS20230021 -
International Journal of Developmental... Nov 2022Fragile X syndrome (FXS) is a leading form of inherited intellectual disability and single-gene cause of autism spectrum disorder (ASD) and is characterized by core... (Review)
Review
Fragile X syndrome (FXS) is a leading form of inherited intellectual disability and single-gene cause of autism spectrum disorder (ASD) and is characterized by core deficits in cognitive flexibility, sensory sensitivity, emotion, and social interactions. Motor deficits are a shared feature of FXS and autism. The cerebellum has emerged as one of the target brain areas affected by neurodevelopmental diseases. Alterations in the cerebellar structure, circuits, and function may be the key drivers of impaired fine and gross motor skills in FXS and fragile X-associated tremor/ataxia syndrome (FXTAS). In this review, we briefly examined recent findings in FXS and present a discussion on the literature supporting motor skill deficits in FXS. Subsequently, we focused on neuropathological alterations in the cerebellum in FXS and FXTAS. We highlight studies that have directly examined the function of fragile X mental retardation protein and related epigenetic variations in the cerebellum. Overall, we obtained considerable supporting evidence for the hypothesis that cerebellar dysfunction is evident in FXS and FXTAS; however, compared with studies on other ASD models, studies on motor skills related to fragile X disorders are particularly rare and inconclusive. Hence, future research should address FXS-related motor and behavioral trajectories and examine the underlying mechanisms at both the cell and circuit levels.
Topics: Humans; Fragile X Syndrome; Motor Skills; Autism Spectrum Disorder; Fragile X Mental Retardation Protein; Cerebellum
PubMed: 35870148
DOI: 10.1002/jdn.10217 -
American Journal of Medical Genetics.... Feb 2023This study examined anxiety in Wiedemann-Steiner syndrome (WSS). Eighteen caregivers and participants with WSS completed the parent- and self-report versions of the...
This study examined anxiety in Wiedemann-Steiner syndrome (WSS). Eighteen caregivers and participants with WSS completed the parent- and self-report versions of the Screen for Child Anxiety Related Disorder or the adapted version of the Screen for Adult Anxiety Related Disorder. Approximately 33.33% of parents and 65% of participants with WSS rated in the clinical range for overall anxiety. Across anxiety subtypes, parents primarily indicated concerns with Separation Anxiety (72%), which was also endorsed by the majority of participants with WSS (82%). The emergent trend showed Total Anxiety increased with age based on parent-informant ratings. The behavioral phenotype of WSS includes elevated anxiety. Clinical management should include incorporating early behavioral interventions to bolster emotion regulation given the observed risk of anxiety with age.
Topics: Humans; Intellectual Disability; Abnormalities, Multiple; Anxiety
PubMed: 36373844
DOI: 10.1002/ajmg.a.63040 -
ELife Oct 2023Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the SLC6A8 gene. The impaired creatine uptake in the brain results in intellectual...
Creatine transporter deficiency (CTD) is an X-linked disease caused by mutations in the SLC6A8 gene. The impaired creatine uptake in the brain results in intellectual disability, behavioral disorders, language delay, and seizures. In this work, we generated human brain organoids from induced pluripotent stem cells of healthy subjects and CTD patients. Brain organoids from CTD donors had reduced creatine uptake compared with those from healthy donors. The expression of neural progenitor cell markers SOX2 and PAX6 was reduced in CTD-derived organoids, while GSK3β, a key regulator of neurogenesis, was up-regulated. Shotgun proteomics combined with integrative bioinformatic and statistical analysis identified changes in the abundance of proteins associated with intellectual disability, epilepsy, and autism. Re-establishment of the expression of a functional SLC6A8 in CTD-derived organoids restored creatine uptake and normalized the expression of SOX2, GSK3β, and other key proteins associated with clinical features of CTD patients. Our brain organoid model opens new avenues for further characterizing the CTD pathophysiology and supports the concept that reinstating creatine levels in patients with CTD could result in therapeutic efficacy.
Topics: Humans; Intellectual Disability; Creatine; Glycogen Synthase Kinase 3 beta; Mental Retardation, X-Linked; Brain; Organoids
PubMed: 37830910
DOI: 10.7554/eLife.88459 -
Disability and Rehabilitation.... Oct 2022The use of assistive technology in mental health has gained an increased interest over the last decades. A growing number of studies have investigated diverse... (Review)
Review
PURPOSE
The use of assistive technology in mental health has gained an increased interest over the last decades. A growing number of studies have investigated diverse applications of technological interventions for rehabilitation of children with neurodevelopmental disorders. This article presents a map of the technological devises applied as therapeutic instruments.
METHODS
The research question of this review was which technological applications could be referred as an educational instrument for the management of children with autism spectrum disorders (ASDs), intellectual disability and attention deficit disorder. The articles included in this review were collected after a structured literature search in electronic databases using keywords such as "Assistive Technology", "technology devices", "robots", "Autism Disorder", "Intellectual Disabilities" and "Mental Retardation".
RESULTS
Assistive technology with the most up-to-date devices and applications helps children with intellectual disability and ASDs enhance cognitive skills and improve challenging behaviour, social communication and academic performance. Different technological tools are used to foster attention span and improve time management skills in children with attention deficit syndrome.
CONCLUSION
It is important that therapists choose the instrument that will offer the best approach towards the goal that is set. Future research could provide evidence based data, evaluating each specific methodology and tailoring each therapeutic approach specifically to a case.IMPLICATIONS FOR REHABILITATIONTechnology creates environments in which children could practice and learn in a safer, more predictable and pleasant manner.Assistive Technologies provide the opportunity for better acquisition of selfhelp skills and the power of social interaction for individuals with disabilities.By mapping out the wide array of Assistive Technology that is available today, future applications for rehabilitation of children with neurodevelopmental disorders could help extend therapeutic strategies out of the clinical and school settings and into the home, thereby incorporating the family and emphasizing personalization.Future studies could develop a model for the choice and use of each tool, tailoring each therapeutic approach specifically to each case.
Topics: Autism Spectrum Disorder; Child; Humans; Intellectual Disability; Neurodevelopmental Disorders; Self-Help Devices; Technology
PubMed: 33125855
DOI: 10.1080/17483107.2020.1839580 -
Genes Apr 2021MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndrome, Lujan-Fryns syndrome, and... (Review)
Review
MED12 is a member of the Mediator complex that is involved in the regulation of transcription. Missense variants in MED12 cause FG syndrome, Lujan-Fryns syndrome, and Ohdo syndrome, as well as non-syndromic intellectual disability (ID) in hemizygous males. Recently, female patients with de novo missense variants and de novo protein truncating variants in MED12 were described, resulting in a clinical spectrum centered around ID and Hardikar syndrome without ID. The missense variants are found throughout MED12, whether they are inherited in hemizygous males or de novo in females. They can result in syndromic or nonsyndromic ID. The de novo nonsense variants resulting in Hardikar syndrome that is characterized by facial clefting, pigmentary retinopathy, biliary anomalies, and intestinal malrotation, are found more N-terminally, whereas the more C-terminally positioned variants are de novo protein truncating variants that cause a severe, syndromic phenotype consisting of ID, facial dysmorphism, short stature, skeletal abnormalities, feeding difficulties, and variable other abnormalities. This broad range of distinct phenotypes calls for a method to distinguish between pathogenic and non-pathogenic variants in MED12. We propose an isogenic iNeuron model to establish the unique gene expression patterns that are associated with the specific MED12 variants. The discovery of these patterns would help in future diagnostics and determine the causality of the MED12 variants.
Topics: Abnormalities, Multiple; Agenesis of Corpus Callosum; Anus, Imperforate; Blepharophimosis; Blepharoptosis; Cholestasis; Cleft Palate; Constipation; Craniofacial Abnormalities; Heart Defects, Congenital; Humans; Intellectual Disability; Marfan Syndrome; Mediator Complex; Mental Retardation, X-Linked; Muscle Hypotonia; Phenotype; Retinitis Pigmentosa
PubMed: 33925166
DOI: 10.3390/genes12050663 -
Clinical Psychology Review Aug 2022Mental imagery is recognised for its role in both psychological distress and wellbeing, with mental imagery techniques increasingly being incorporated into psychological... (Review)
Review
Mental imagery is recognised for its role in both psychological distress and wellbeing, with mental imagery techniques increasingly being incorporated into psychological interventions. In this systematic review and narrative synthesis (PROSPERO 2021: CRD42021240930), we identify and evaluate the evidence base for the phenomenon and phenomenology of mental imagery in people with intellectual disabilities, to ascertain the applicability of such interventions for this population. Electronic searches of nine databases and grey literature identified relevant publications. Two reviewers independently assessed titles and abstracts of retrieved records (n = 8609) and full-text articles (n = 101) against eligibility criteria. Data were extracted and quality appraised. Forty-onepapers met our eligibility criteria. The quality and designs were variable. Mental imagery was facilitated through ensuring participants understood tasks, providing opportunity to rehearse tasks (including using concrete prompts) and using scaffolding to help participants elaborate their responses. People with intellectual disabilities can engage with mental imagery, with appropriate adaptations, although the associated phenomenology has not been thoroughly investigated. Mental imagery interventions may be useful for people with intellectual disabilities with appropriate modifications.
Topics: Humans; Intellectual Disability
PubMed: 35738164
DOI: 10.1016/j.cpr.2022.102178 -
BMC Public Health Apr 2021Disability in India is associated with increasing non-communicable diseases, rising longevity, and increasing accidents and injuries. Though studies have examined...
BACKGROUND
Disability in India is associated with increasing non-communicable diseases, rising longevity, and increasing accidents and injuries. Though studies have examined prevalence, patterns, and socioeconomic correlates of disability, no attempt has been made in estimating age of onset of disability in India.
OBJECTIVE
This paper investigates the economic gradient of age of onset of locomotor, visual, hearing, speech, mental retardation, mental illness, and other disabilities in India.
METHOD
We use nationally representative data of 106,894 disabled individuals from the 76th round of National Sample Survey (NSS), 2018. Descriptive statistics, kernel density, Kaplan-Meier survival curves, and linear regression models are used in the analysis.
RESULT
The disability rate in India was 2184 per 100,000 persons. The disability rate was highest for locomotor (1353) followed by hearing (296), visual (234), speech (228), mental retardation (158), and mental illness (131). Over 85% of mental retardation and 80% of speech disabilities occur at birth, while 82% of locomotor and 81% of visual disabilities occur after birth. Among those who had disability after birth, the median age for mental retardation was 2 years followed by mental illness (28 years), speech (29 years), locomotor (42 years), visual (55 years), and 56 years for hearing disability. Adjusting for socioeconomic covariates, the age of onset of locomotor and speech disabilities among the poorest individuals were 7 and 11 years earlier than the richest, respectively.
CONCLUSION
The economic gradient of onset of locomotive and speech disabilities are strong. The age of onset of disability was earliest for mental retardation followed by mental illness and speech disability.
Topics: Child; Child, Preschool; Disabled Persons; Humans; India; Infant, Newborn; Intellectual Disability; Poverty; Prevalence
PubMed: 33882902
DOI: 10.1186/s12889-021-10826-5