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PubMed2026

A recurrent CCDC82 frameshift variant associated with syndromic neurodevelopmental disorder in a consanguineous Pakistani family.

BACKGROUND: Intellectual disabilities (IDs) are part of neurodevelopmental disorders (NDDs) and are genetically heterogeneous conditions characterized by impairments in cognition, learning, and adaptive functioning. Despite advances in gene discovery, many individuals, particularly those from understudied populations, remain without a molecular diagnosis. Recent reports implicate CCDC82 (HGNC: 26282) as an autosomal recessive ID gene, although the phenotypic spectrum and biological context remain incompletely defined. METHODS: Exome sequencing (ES) was performed in a consanguineous Pakistani family (PKMR06A) with four affected individuals presenting with moderate to severe ID. Variant segregation was confirmed by Sanger sequencing. In silico analyses, including pathogenicity prediction, protein structural modeling, and domain intolerance assessment, were used to evaluate the functional consequences of the identified variant. Spatiotemporal gene expression patterns were examined using bulk and single-cell human brain transcriptomic datasets. RESULTS: Clinically, affected individuals of family PKMR06A presented with early childhood global developmental delay, speech delay, hypotonia, gait abnormalities, spasticity, and mild facial dysmorphism. Genetic screening revealed a recurrent rare homozygous frameshift variant in CCDC82 (NM_024725.4): c.373del; p.(Asp125Ilefs*6), segregating with disease in all available affected individuals of the family. The identified c.373del variant was absent from the gnomAD database and was classified as pathogenic (PVS1, PM2, and PP1) based on ACMG/AMP criteria. The c.373del variant is predicted to introduce a premature termination codon, p.(Asp125Ilefs*6), leading to deletion of essential coiled-coil domains from the encoded protein, supporting a loss-of-function mechanism. In silico, transcriptomic analyses demonstrated preferential CCDC82 expression during prenatal human brain development, providing developmental context for the neurodevelopmental phenotype associated with the identified truncating variant. CONCLUSIONS: This study expands the mutational landscape of CCDC82 and provides additional clinical and molecular evidence supporting its role in autosomal recessive NDD. The findings reinforce the importance of CCDC82 in human neurodevelopment and highlight the value of genomic investigation in underrepresented populations.

Autosomal recessive↗
PubMedDate not supplied

A psychometric evaluation of a Swedish version of the psychopathology inventory for mentally retarded adults (PIMRA).

Given the difficulties with symptom identification and the assessment of mental health problems in persons with intellectual disabilities (ID) there has been a focus on the development of relevant assessment schedules for persons with ID. A Swedish version of the psychopathology inventory for mentally retarded adults (PIMRA, informant version), an instrument designed for identification of specific mental health problems in persons with ID, was evaluated in terms of inter-rater reliability, internal consistency, item grouping, criterion and concurrent validity based on a sample of 101 adults with different levels of ID. The Swedish version of the PIMRA had low inter-rater agreement on specific items but good agreement on low or high total score. In order to investigate internal validity, principal component analyses (PCA) were conducted in steps. Consequently, the majority of the 26 items, which remained after three PCA analyses, were grouped in a pattern approximating five of the original PIMRA subscales. The present analysis identified no item grouping matching the original Affective disorder subscale. Based on these results a revised Swedish version was developed. The concurrent validity analysis yielded a strong association between the total scores of the PIMRA and Reiss Screen for Maladaptive Behaviour (RSMB), between subscales on both instruments describing psychotic symptoms and between the RSMB subscale Aggressive behaviour and the PIMRA subscale Adjustment problems. The outcome of the criterion validity analysis indicated that individuals with a clinical diagnosis obtained higher total PIMRA scores than individuals without a clinical diagnosis and a comparison between the PIMRA subscale Psychosis and the clinical diagnosis indicating psychoses according to DSM-III-R or DSM-IV yielded a higher specificity than sensitivity measure. The results indicate that the PIMRA had a potential to identify individuals with mental health problems in persons with different levels (mild, moderate and severe) of ID and identify individuals with a specific mental disorder. Thus, professionals might use the PIMRA as a complement in the diagnostic process.

Adult↗
PubMed2025

AUTS2-related syndrome: Insights from a large European cohort.

PURPOSE: AUTS2-related syndrome is characterized by developmental delay, autism spectrum disorder, and intellectual disability. From alternative promoters, AUTS2 encodes 2 distinct long and short isoforms encoding a putative transcriptional activator. METHODS: Through a European collaborative study, we collected clinical and genotype data on the largest AUTS2-related syndrome cohort of 58 patients harboring genomic rearrangements or single-nucleotide variants (SNVs). RESULTS: Pathogenic SNVs were recurrently found in individuals from different countries, suggesting mutational hotspots. Independent of the underlying defect at the AUTS2 locus, we observed that autistic behavior, hyperactivity, learning difficulties, and speech delay are common features of AUTS2-related syndrome. Among patients with SNVs, individuals carrying pathogenic variants affecting both longer and shorter AUTS2 transcripts showed a recognizable phenotype with microcephaly, brachycephaly, microretrognathia, broad nasal base, and anteverted nares. Behavioral disorders were more common in patients with variants affecting only the longer isoform. Arthrogryposis and stiff movements were only observed in patients with SNVs. CONCLUSION: This study provides a comprehensive clinical characterization of AUTS2-related syndrome, reveals few genotype-phenotype correlations, and suggests that the disruption of the 2 distinct AUTS2 transcripts has a different impact on the clinical phenotype.

Humans↗
PubMed2024

Clinical characteristics and genetic analysis of four pediatric patients with Kleefstra syndrome.

BACKGROUND: Kleefstra syndrome spectrum (KLEFS) is an autosomal dominant disorder that can lead to intellectual disability and autism spectrum disorders. KLEFS encompasses Kleefstra syndrome-1 (KLEFS1) and Kleefstra syndrome-2 (KLEFS2), with KLEFS1 accounting for more than 75%. However, limited information is available regarding KLEFS2. KLEFS1 is caused by a subtelomeric chromosomal abnormality resulting in either deletion at the end of the long arm of chromosome 9, which contains the EHMT1 gene, or by variants in the EHMT1 gene and the KMT2C gene that cause KLEFS2. METHODS: This study was a retrospective analysis of clinical data from four patients with KLEFS. Exome sequencing (ES) and Sanger sequencing techniques were used to identify and validate the candidate variants, facilitating the analysis of genotype‒phenotype correlations of the EHMT1 and KMT2C genes. Protein structure modeling was performed to evaluate the effects of the variants on the protein's three-dimensional structure. In addition, real-time quantitative reverse transcription‒polymerase chain reaction (RT‒qPCR) and western blotting were used to examine the protein and mRNA levels of the KMT2C gene. RESULTS: Two patients with KLEFS1 were identified: one with a novel variant (c.2382 + 1G > T) and the other with a previously reported variant (c.2426 C > T, p.Pro809Leu) in the EHMT1 gene. A De novo deletion at the end of the long arm of chromosome 9 was also reported. Furthermore, a patient with KLEFS2 was identified with a novel variant in the KMT2C gene (c.568 C > T, p.Arg190Ter). The RT‒qPCR and western blot results revealed that the expression of the KMT2C gene was downregulated in the KLEFS2 sample. CONCLUSION: This study contributes to the understanding of both KLEFS1 and KLEFS2 by identifying novel variants in EHMT1 and KMT2C genes, thereby expanding the variant spectrum. Additionally, we provide the first evidence of how a KMT2C variant leads to decreased gene and protein expression, enhancing our understanding of the molecular mechanisms underlying KLEFS2. Based on these findings, children exhibiting developmental delay, hypotonia, distinctive facial features, and other neurodevelopmental abnormalities should be considered for ES to ensure early intervention and treatment.

Child↗
PubMed2001

Self-injurious behaviour before and after deinstitutionalization.

The deinstitutionalization movement is presently spreading in Europe. Studies evaluating the effects of deinstitutionalization on behaviour disturbances among people with intellectual disability (ID) have been inconclusive. The present paper focuses on people without self-injurious behaviour (SIB) who developed SIB after deinstitutionalization. The present authors studied individual and environmental characteristics before and after deinstitutionalization to look for factors associated with the development of SIB which could also be possible intervention points for preventive action. All those individuals in an institution for people with ID who did not have SIB before deinstitutionalization were included in the present study. The individuals who developed SIB after deinstitutionalization (n = 15) formed the study group (group A) and those who did not (n = 53) comprised the control group (group B). The population was examined both before and after deinstitutionalization. As far as possible, the same methods were used at both occasions. The covariates were both individual (e.g. mental health, behaviour disturbances and behaviour deficits) and environmental (e.g. caretaker education, caretaker:patient ratio, housing and leisure activities). Psychiatric disorders were identified in 1987 and 1995 with the Psychopathology Instrument for Mentally Retarded Adults, which was filled in by the caretakers. In 1987, the people in group A who acquired SIB had lower developmental quotients, used wheelchairs more often and had trouble with moving around without help. They also had a greater frequency of epileptic seizures, and hearing and communication impairment. In 1995, there were only minor environmental differences between groups A and B. There were significantly more individuals involved in the rotation period and more unskilled caretakers working with the people in group A than group B. The present authors found no differences between the two groups on variables such as global mental health and behaviour disturbances, or in the use of neuroleptics before or after deinstitutionalization. Groups A and B did not show differences in behaviour disturbances or psychiatric disorders in 1987. In both 1987 and 1995, there were no differences between groups A and B on variables such as accommodation, caretaker:patient ratio, the number of caretakers involved in direct care, the caretakers' education, or the time spent in structured activities before and after deinstitutionalization. The individual characteristics indicating that a person may acquire SIB are behaviour deficits which are suggestive of central nervous system dysfunction or damage, even if the results are inconclusive. The development of SIB may also be facilitated by communication deficits or by reinforcement of a incidentally occurring SIB if the staff includes many unskilled caretakers in the rotation period.

Adolescent↗
PubMed2025

Genomic and Developmental Models to Predict Cognitive and Adaptive Outcomes in Autistic Children.

IMPORTANCE: Although early signs of autism are often observed between 18 and 36 months of age, there is considerable uncertainty regarding future development. Clinicians lack predictive tools to identify those who will later be diagnosed with co-occurring intellectual disability (ID). OBJECTIVE: To predict ID in children diagnosed with autism. DESIGN, SETTING, AND PARTICIPANTS: This prognostic study involved the development and validation of models integrating genetic variants and developmental milestones to predict ID. Models were trained, cross-validated, and tested for generalizability across 3 autism cohorts: Simons Foundation Powering Autism Research (SPARK), Simons Simplex Collection, and MSSNG. Autistic participants were assessed older than 6 years of age for ID. Study data were analyzed from January 2023 to July 2024. EXPOSURES: Ages at attaining early developmental milestones, occurrence of language regression, polygenic scores for cognitive ability and autism, rare copy number variants, de novo loss-of-function and missense variants impacting constrained genes. MAIN OUTCOMES AND MEASURES: The out-of-sample performance of predictive models was assessed using the area under the receiver operating characteristic curve (AUROC), positive predictive values (PPVs), and negative predictive values (NPVs). RESULTS: A total of 5633 autistic participants (4574 male [81.2%]) were included in this analysis. On average, participants were diagnosed with autism at 4 (IQR, 3-7) years of age and assessed for ID at 11 (8-14) years of age, with 1159 participants (20.6%) being diagnosed with ID. The model integrating all predictors yielded an AUROC of 0.653 (95% CI, 0.625-0.681), and this predictive performance was cross-validated and generalized across cohorts. This modest performance reflected that only a subset of individuals carried large-effect variants, high polygenic scores, or presented delayed milestones. However, combinations of genetic variants that are typically not considered clinically relevant by diagnostic laboratories achieved PPVs of 55% and correctly identified 10% of individuals developing ID. The addition of polygenic scores to developmental milestones specifically improved NPVs rather than PPVs. Notably, the ability to stratify ID probabilities using genetic variants was up to 2-fold higher in individuals with delayed milestones compared with those with typical development. CONCLUSIONS AND RELEVANCE: Results of this prognostic study suggest that the growing number of neurodevelopmental condition-associated variants cannot, in most cases, be used alone for predicting ID. However, models combining different classes of variants with developmental milestones provide clinically relevant individual-level predictions that could be useful for targeting early interventions.

Humans↗
PubMed2002

Predictors for attacks on people after deinstitutionalization.

BACKGROUND: The deinstitutionalization movement is presently spreading in Europe, but studies evaluating the effects of deinstitutionalization on behaviour disturbances among people with intellectual disability (ID) are inconclusive. The prevalence of aggressive behaviour among people with ID is high in both institutions and in community. Aggression and attacks on people are a significant problem for people with ID in both institutions and society. In the present paper, the authors focus on individuals who started attacking people after deinstitutionalization. METHOD: The authors studied individual and environmental characteristics before and after deinstitutionalization to look for individual and environmental predictors for the development of aggression with the hope that some could be possible intervention points for preventive action. In an institution for people with ID, all who did not attack people before deinstitutionalization were included. The individuals who started attacking others after deinstitutionalization (n = 22) were the study group (group A) and those who did not (n = 42) comprised the control group (group B). The population was examined before and after deinstitutionalization. As far as possible the same methods were used at both occasions. The covariates included individual ones, such as mental health, behaviour disturbances and behaviour deficits, and environmental ones, such as caretaker education, caretaker:patient ratio, housing and leisure activities. Psychiatric disorders were identified in 1987 and 1995 with the Psychopathology Instrument for Mentally Retarded Adults (PIMRA), which was filled in by the caretakers. RESULTS: Group A showed significantly more self-injurious behaviour (SIB) than group B in 1987. The sum of behaviour disturbances shown in the past year, attacks on property, SIB and other disruptive behaviours were also significantly higher in group A than in group B. The soundness scores on the PIMRA for the people in group A were lower than for the people in group B. Group A contained significantly fewer people without behavioural problems in the past year. The authors could not find any differences on other individual characteristics such as aetiologies of ID and behaviour deficits in 1987. The caretakers' evaluations of the clients need for help, based on behaviour disturbances and mental health problems, were significantly higher in group A. The people in this study differed in age, gender and degree of ID from those in most other studies on ID and challenging behaviour. CONCLUSION: The individual predictors for starting to attack others after deinstitutionalization were SIB, a slight load of other behaviour problems and a low soundness score on the PIMRA. The only environmental predictor was the caretakers' evaluation of the subjects' need for help caused by behaviour problems and mental illness. The authors could not identify possible preventive intervention points, neither individual or environmental, and therefore, further studies are needed.

Adolescent↗
PubMed1990

Postoperative complications in patients with disabling psychiatric illnesses or intellectual handicaps. A case-controlled, retrospective analysis.

The purpose of this study was to quantitate the operative risk and costs encountered in the surgical treatment of institutionalized patients. Operative complications and duration of hospitalization for 200 institutionalized patients were compared with those in a control group of patients matched for age, sex, and type of operation drawn from the general hospital population. Postoperative complications occurred in 53 (26.5%) of the patients in the study group compared with 15 (7.5%) of the patients in the control group. Elective laparotomy was followed by a complication in 48% of institutionalized patients compared with 11.6% of matched controls. Emergency celiotomy carried a 75% complication rate in the study group. Atelectasis and pneumonia accounted for 50% of the postoperative complications and occurred with greatest frequency following intra-abdominal procedures. The median hospital stay for all institutionalized patients was 3 days more than for matched controls. A strategy for postoperative treatment is presented, with particular emphasis on prevention of pulmonary complications.

Anesthesia↗
PubMed2001

Consistency, context and confidence in judgements of affective communication in adults with profound intellectual and multiple disabilities.

Twenty-four service providers rated 12 video samples of four service users with whom they were familiar for affective behaviour (i.e. 'like'/'dislike') and confidence (i.e. 'certain'/'uncertain') in their judgement. Each video sample had been recorded as part of a stimulus preference assessment during which a wide range of specific stimuli were presented to each service user. Each video sample was presented twice in a counterbalanced design either with contextual information, i.e. what the presented stimulus was (C) or without such information, i.e. context free (CF). The observers showed considerable individual variation in their judgements, largely uninfluenced by the availability or otherwise of contextual information. However, as a group, observers significantly distinguished between video samples with regard to affective communication (determined through multiple analyses of variance) and the pattern of judgements, i.e. the relative judgement of positive or negative affect, from one sample to another. This showed a good level of consistency between observers (determined through principal components analysis). The impact of contextual information was not apparent for all video samples. However, contextual information significantly influenced judgements in four samples, typically making them more extreme; for example, a response indicative of positive affect in the CF situation became more positive when contextual information was provided, indicating that the stimulus was one that the participant was thought to like.

Adult↗
PubMed1997

[Characteristic situation on prevention of nosocomial infection in the hospital for the severely multi-disabled--experiences in care and treatment of 4 kinds of viral hepatitis].

We experienced Hepatitis A, B, C and fulminant hepatitis due to Herpes simplex virus type 1 (HSV-1) in our hospital for the severely multi-disabled (SMD) who had both severe motor and intellectual disabilities, and some of whom might be further complicated by blindness and/or deafness. In this hospital, 100 SMDs are hospitalized. Case 1: The disabled, 25 year old male, was transmitted Hepatitis A from a nurse. Case 2: The disabled, 60 year old female carrier of Hepatitis B virus (HBV) who has been cared for more than 10 years. Case 3: The disabled, 46 year old male carrier of Hepatitis C virus (HCV) (RNA type 3), has been cared for more than 4 years. Case 4: The disabled, 39 year old male, had a fever of 39 degrees C for 9 days and suddenly died. He was diagnosed as fulminant hepatitis due to HSV-1 by necropsy. The hospitals for SMD are characteristic in prevention of nosocomial infections; 1) The disabled infected is not aware of the fact that he or she is the source of infection and that the other disabled living with him or her are in risk of infection, because of their severe mental condition. 2) All of the disabled need complete or incomplete helps for activities of daily life (ADL), so that the disabled who is the carrier of some pathogen constantly gives risk of infection to staffs, including medical staffs (doctor, nurse and therapist), psychologist and helpers by bloody secretion from wounds, saliva, urine, feces as well as menstrual blood. 3) If a carrier of some pathogen is hospitalized, the staffs should serve under risk of infection involving blood-mediated infectious disease for many years, because SMDs are permitted lifelong stay in the hospitals for SMD, which also play a role of care house or institution, by public expense in Japan. In case of an outbreak of Hepatitis A, nosocomial infection ended in the original case (a nurse), another nurse and a case of the disabled by general treatment and care against communicable diseases of the digestive organs. In care of HBV and HCV carriers, an ordinary program to prevent nosocomial infection has been practiced in our hospital more strictly than in conventional hospital. HBV vaccine is injected to staffs caring the HB carriers who are negative on HBs antibody. Thus, during more than 10 years of care of HBV carrier and more than 4 years of care of HCV carrier, nosocomial infection has never been experienced clinically as well as serologically in our hospital. However, we have often been faced by difficulty to guarantee QOL (quality of life) of the carriers, because carrier states of HBV or HCV have been long-lasting and they have been occasionally and inevitably separated physically and/or psychologically in order to prevent nosocomial infection. In case 4, it was suspected that previously latently infected HSV-1 would be activated by another viral infection which had elicited fever for 9 days before death. The patient had neither history nor sign or symptom of immunodeficiency and had never been given drugs known as to be immunosuppressive as side effect.

Adult↗
PubMed1998

Face recognition and emotion perception in boys with fragile-X syndrome.

Two independent and complementary studies were conducted to assess the ability of boys with fragile-X syndrome to recognize facial and emotional expressions. Both studies failed to find any specific deficits associated with fragile-X syndrome. The performance of the test group was comparable to the level of subjects with intellectual disability and subjects of average cognitive development matched for intellectual ability. This suggests that chronological age and intellectual level are unlikely to explain the findings. The results are discussed in the context of the controversy surrounding the relationship between autism and fragile-X syndrome. The findings are consistent with fragile-X individuals having a profile of social, communicatory and ritualistic disturbances, which in some ways may differ from those found in individuals who have more typical autistic spectrum disorders.

Affect↗
PubMedDate not supplied

Psychosocial theories of depression for individuals with intellectual and developmental disabilities: a historicist perspective.

The mental health care system has historically marginalized individuals with intellectual and developmental disabilities (I/DD). Until the mid-1980s, many clinicians doubted that individuals with I/DD were capable of depression (Sovner & Pary, 1993). Although it is now generally accepted that individuals with I/DD do have depression, they may not be treated or may be inappropriately treated (Matson et al., 2000). A historicist perspective takes into account the effect of marginalization on science and practice. Depression has both biological and psychosocial aspects. Key groups of theories regarding the psychosocial aspects of depression include psychodynamic/psychoanalytic, behavioral, cognitive, and ecological/interpersonal theories (Clark, Beck, & Alford, 1999; Joiner, Coyne, & Blalock, 1999). The application of psychosocial theories of depression to individuals with I/DD continues to reflect their marginalization and oppression. Behavioral theories of depression are limited in their conceptions for research, identification, and treatment of depression but continue to be used widely with individuals with I/DD. Cognitive theories of depression are widely used in research and treatment of depression in the general population, but have limited usage among individuals with I/DD. Interpersonal theories of depression are used in the general population and have many benefits, but are only now being investigated for use with individuals with I/DD. In this article, theories of depression as applied to individuals with I/DD are discussed from a historicist perspective.

Child↗
PubMed2006

Sleep disturbances in the disabled child--a case report and literature review.

Sleep disturbances in children are common. In children with intellectual disabilities sleeping problems are more common. This may result in increased burden of illness, additional parental stress, and day time behavioural difficulties. This article illustrates the problems that sleep disturbances create for children with disabilities and discusses methods for managing sleep problems.

Anticonvulsants↗
PubMed2005

Leisure provision for persons with profound intellectual and multiple disabilities: quality time or killing time?

BACKGROUND: Information on the duration, frequency and content of leisure activities for persons with profound intellectual and multiple disabilities (PIMD) in residential facilities during weekends was not available. METHOD: The project was carried out in 2003 and included seven facilities. Interviews were held with direct support professionals of 112 living units. Consequently, the actual leisure provision of 160 persons with PIMD was recorded over a period of four weekends. This study also investigated the relationship between setting characteristics and the distribution of the content, frequency and duration of leisure activities. Age and gender of persons with PIMD were under investigation. RESULTS: A total mean of 3.8 h of leisure activities is provided for during the full weekend, almost half of which includes watching television or listening to music. Leisure activities are almost exclusively offered by professionals. Parents or volunteers only provide a minimum of activities during weekends. The results suggest that the leisure provision for persons with PIMD is severely restricted and not bound to any service provider in particular. Generally, with increasing age the leisure provision for persons with PIMD declines in number and in variety. No effect was found for gender. CONCLUSIONS: Leisure time for persons with PIMD contains more empty hours than quality time.

Adolescent↗