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[Canadian mental health rights in an international perspective].

This article surveys the status of people with mental disorders in the light of international human rights law and assesses if their rights are respected in the Canadian context. The authors recognize that although the national systems of countries such as Canada provide significant civil and constitutional protections on the positive rights of its citizens, including those who suffer from intellectual disability, the same cannot be said with respect to entitlements to the provision of social services. The authors argue that this shortcoming must be remedied. Finally, the authors conclude that it is paramount to closely monitor the apparent dissonance between internationally recognized rights to adequate healthcare and freedom from discrimination and their strict application in the Canadian context.

Canada↗

Increased life expectancy in people with untreated phenylketonuria.

The records of 17 people with intellectual disability and untreated phenylketonuria (12 females and five males), who were resident in the Stoke Park Group of Hospitals, Bristol, England, 25 years ago, were re-examined for life expectancy. Six subjects had died (five females and one male). The oldest deceased female was 69 years of age. The average age at death was 55.8 years. Eleven subjects were still alive (seven females and four males). The oldest living male was 79 years of age. The average age of the survivors was 55.7 years.

Adult↗

Interstitial deletion of the band 4p15.3 defined by sequential replication banding.

A 15-year-old boy with intellectual disability was found to have a de novo interstitial deletion in the short arm of chromosome 4. Using GTL banding and sequential replication banding the deleted band was found to be the more terminal of the two G dark sub-bands of 4p15, that is 4p15.3. The karyotype was defined as 46,XY,del(4)(p15.2p16.100). To our knowledge this specific deletion has not been previously described.

Abnormalities, Multiple↗

Experimental functional analyses for challenging behavior: a study of validity and reliability.

The convergent validity of an experimental (analog) functional analysis was investigated by a comparison of three separate ways of interpreting the data derived from such an assessment: two previously published methods and the criterion Z method derived by the authors. Data from the experimental functional analysis of the challenging behavior(s) of 27 individuals with intellectual disabilities were analyzed to assess agreement between the three forms of interpretation. The test-retest reliability of all three methods over periods of 2 weeks, 1 month, and 3 months was also calculated. The results suggest that the methods of interpreting function from experimental assessments can give different results and that the test-retest reliability of the experimental functional analyses is poor. The implications of these findings are discussed in relation to clinical practice.

Adult↗

Random number generation in autism.

This study explored the ability of individuals with autism to generate a unique series of digits. Fourteen low-functioning individuals with autism, 14 intellectually disabled individuals, and 14 postgraduate university students generated a series of pseudo-random digits. Individuals with autism were more likely to repeat previous digits than were either of the control groups. The normal control group, however, was less likely to attempt cycling through all digits before repeating. Accordingly, low-functioning individuals with autism may exhibit a short-fall in response inhibition. This finding supports the executive dysfunction theory of autism.

Adolescent↗

A critique of the Diagnostic Criteria for Psychiatric Disorders for Use with Adults with Learning Disabilities/Mental Retardation (DC-LD) chapter on non-affective psychotic disorders.

BACKGROUND: There has been a longstanding interest in the study of psychotic disorders in adults with intellectual disability. The DC-LD chapter for non-affective psychotic disorders provides operationalised criteria for use with this population. METHODS: A detailed, structured review of the literature was carried out. Relevant papers were reviewed to provide a framework for a critique of the DC-LD criteria. RESULTS: Most of the research literature focuses on psychotic disorders in adults with mild intellectural disability and suggests that this group experience clinical symptoms similar to those experienced by adults with average abilities. Although the DC-LD criteria for non-affective psychotic disorders are derived from the ICD-10 equivalent categories they are broader than other classification systems, which may affect their reliability, validity and utility. CONCLUSIONS: At this stage, it is important that the DC-LD criteria are used alongside established systems to gather information about their use for clinical and research purposes.

Adult↗

Conducting qualitative interview research with people with expressive language difficulties.

Despite the increasing application of qualitative interviewing and analysis approaches, individuals with expressive language difficulties are still frequently excluded from such research. In this article, the authors seek to clarify the role for and importance of conducting qualitative interviews with respondents with impaired expressive language. They review current research with reference to studies conducted with individuals with intellectual disabilities or dementia, or those who have experienced stroke or traumatic brain injury, and identify deficits within existing research. They consider the challenges and difficulties that contribute to the limited inclusion of individuals with impaired expressive communication in qualitative interviews and discuss the way forward with suggestions of possible means of overcoming these obstacles. They argue that a willingness to adapt methods appropriately and to modify expectations is an important factor in ensuring that researchers hear the voice of respondents with expressive language deficits.

Bias↗

Support needs and adaptive behaviors.

We used a prepublication version of the Supports Intensity Scale (SIS), the Adaptive Behavior Scale-Residential and Community, and the Inventory for Client and Agency Planning to examine the relationship between support needs and adaptive behavior for 80 people with intellectual disabilities. Dimensionality of the SIS Support Needs Scale (Section 1) was examined in reference to the three areas of conceptual, social, and practical skills reported by the American Association on Mental Retardation as comprising the adaptive behavior construct. Factor analysis of the adaptive behavior subscales and SIS Support Need Scale offered support for measurement of a common underlying construct. When considered in terms of the three adaptive behavior skill areas, this construct related predominantly to conceptual skills.

Adaptation, Psychological↗

Factor structure of the Matson Evaluation of Social Skills for Individuals with Severe Retardation (MESSIER).

OBJECTIVE: A factor analysis of the Matson Evaluation of Social Skills for Individuals with Severe Retardation (MESSIER) was conducted to determine if there was an underlying factor structure which supported a distinction between positive and negative social skills. DESIGN: Principal Axis Factoring with oblimin rotation was used to determine if a two-factor solution was valid. This method was selected to account for shared variance between the items and for correlation between the factors. METHOD: The MESSIER was administered by trained staff to 805 individuals with severe and profound intellectual disability residing in a state residential facility. RESULTS: Results of the factor analysis yielded two categories (positive and negative behaviours) that corresponded to the general division of the clinically derived subscales. CONCLUSIONS: The psychometric research on the MESSIER was extended with an examination of the factor structure. The results of the factor analysis, corresponding with the general division of the clinically derived subscales, are promising. Future research should be conducted to determine if factor scores can be used to determine norms.

Adult↗

Paroxysmal tonic upgaze: a reappraisal of outcome.

Paroxysmal tonic upgaze (PTU) of childhood is a distinctive neuro-ophthalmological syndrome of unknown etiology and pathogenesis that is characterized by episodes of sustained upward deviation of the eyes, often with incomplete downward saccades on attempted downgaze. It is generally regarded as having a benign outcome. We observed 16 children with PTU, from 10 months to 11 years from onset (mean, 5.4 years), to study the natural history and possible etiology. Five cases were from two unrelated families. Onset of PTU occurred either during or after an intercurrent infection or vaccination in 5 children. No antecedent was identifiable in the rest. PTU had completely resolved in 10 children (62%) (mean age at offset, 2.5 years), whereas 2 children intermittently manifest a modified form of the disorder. At follow-up, 11 children (69%) had developmental delay, intellectual disability, or language delay and 9 (56%) had ocular motility problems other than PTU. Only 3 children (19%) had normal development and neurological findings. PTU is a heterogeneous syndrome with respect to associations and outcome and may simply be an age-dependent manifestation of a variety of disorders affecting corticomesencephalic control of vertical eye movement. This disorder may be an early sign of more widespread neurological dysfunction.

Adolescent↗

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.

BACKGROUND: Global developmental delay/intellectual disability (GDD/ID) is among the most common neurodevelopmental disorders, with up to half of cases are attributed to genetic factors. Chromosome microarray (CMA) has traditionally been the primary genetic test for idiopathic GDD/ID. However, whole exome sequencing (WES) and whole genome sequencing (WGS) have recently emerged, substantially increasing diagnostic yields in these populations. METHODS: We conducted a comprehensive literature search of PubMed, Scopus, EMBASE, and the Cochrane Library from inception to April 29, 2025. Studies reporting the diagnostic utility of these tests in children with GDD/ID were included and analyzed. RESULTS: A total of 102 studies, comprising 55,752 children, were reviewed. The pooled diagnostic yield of WES was 0.37 (95% CI: 0.33-0.41; I2 = 93%), significantly higher than that of CMA at 0.19 (95% CI: 0.16-0.21; I2 = 95%). Subgroup analyses showed that WES yielded significantly higher diagnostic rates than CMA in both same-sample comparisons (OR = 2.27, 95% CI: 1.08-4.78) and different-sample comparisons (OR = 1.65, 95% CI: 1.15-2.37). Only one study evaluated WGS, reporting a diagnostic yield of 0.27. Meta-regression revealed a significant association between CMA diagnostic yield and the proportion of male participants (p&#x2009;<&#x2009;0.01), but not with WES. No significant difference in diagnostic utility was observed between isolated GDD/ID and GDD/ID with comorbidities. CONCLUSION: In children with unexplained GDD/ID, WES demonstrates superior diagnostic and clinical utility compared to CMA. Incorporating WES as a first-line investigation in the diagnostic evaluation of GDD/ID may be warranted.

Humans↗

Does passive leg activity influence oxygen saturation and activity in sedentary elderly adults?

This study aimed to investigate whether any physiological changes might have a clinically significant effect on function in sedentary, institutionalized, older adults treated by a passive training program. A total of 18 subjects (mean age 60.7 +/- 3.4) with intellectual disability (ID) participated. We measured SpO2 (arterial oxygen saturation) before, during, and after passive training, and used Barthel Index to measure daily living activities. The general trend indicated that inactive people with ID evidenced a continual increase in SpO2% levels and some functional gains during passive treatment, with superiority to manual passive treatment compared to mechanical active passive training. For current clinical practice, most sedentary patients who experience clinically significant deconditioning and desaturation can benefit from passive treatment.

Activities of Daily Living↗

Implicit learning in children and adolescents with mental retardation.

The literature on implicit learning in persons with mental retardation is scarce and contradictory with respect to the relationship between degree of intellectual disability and impact of implicit-learning processes on performance. We examined children and adolescents with mild or moderate mental retardation and typically developing children matched on MA with regard to their implicit learning. Individuals with mental retardation modified their behavior after an implicit training procedure in a way similar to MA- or CA-matched controls. The impact of implicit learning did not vary as a function of IQ or age. However, some differences appeared between groups in their explicit remembering of the training conditions. The theoretical implications of these results are discussed.

Adolescent↗

Sandifer syndrome misdiagnosed as refractory partial seizures in an adult.

We report a 27 year-old man with intellectual disability and no prior history of seizures who presented with episodes of abdominal pain, head/eye version and unresponsiveness that were misdiagnosed and treated as partial seizures. Associated vomiting and haematemesis led to the correct diagnosis and treatment of reflux oesophagitis. The episodes immediately resolved and a diagnosis of Sandifer syndrome was made. This is only the second report of Sandifer syndrome in adult, a movement disorder of unknown mechanism that occurs almost exclusively in young children, often misdiagnosed as epilepsy or episodic dystonia. (Published with videosequences).

Adult↗

Living with support in the community: predictors of choice and self-determination.

Ensuring that people with intellectual disability experience typical levels of choice and self-determination has become an essential objective for quality disability services. Three perspectives on self-determination were identified in the literature: psycho-educational, ecological, and socio-political. Personal characteristics, specific self-determination competencies, and environmental variables all were found to be associated with choice and self-determination. Living environments that were smaller and more individualized were linked to greater choice and self-determination. The theoretical perspective investigators applied to the issues influenced approaches to research and intervention, and differences in emphasis were evident regarding the relative importance of self-determination competencies and environmental factors. MRDD Research Reviews 7:91-98, 2001.

Choice Behavior↗

Clozapine treatment of psychosis associated with velo-cardio-facial syndrome: benefits and risks.

BACKGROUND: Clozapine is licensed for the treatment of psychotic illnesses resistant to other antipsychotic medications. Velo-cardio-facial syndrome (VCFS) is associated with a vulnerability to psychotic illness that may be resistant to treatment with conventional typical and atypical antipsychotics. PATIENTS AND METHODS: A 32-year-old man with intellectual disability (ID) and a long history of treatment-resistant psychosis was found to have VCFS. Treatment with typical antipsychotic drugs and with one atypical olanzapine produced no improvement. RESULTS: Treatment with clozapine produced an improvement in psychotic symptoms and associated behavioural abnormalities, but caused hypersalivation, constipation and a seizure disorder. The latter led to two fractures, one requiring surgery. The addition of sodium valproate stopped seizures. CONCLUSIONS: Clozapine may improve psychotic symptoms for people with ID associated with VCFS, but clinicians should be alert for potential adverse effects.

Abnormalities, Multiple↗

The impact of levetiracetam on challenging behavior.

An observational longitudinal design was employed to evaluate whether treatment with the antiepileptic drug levetiracetam (LEV) adversely impacts behavior in people with intellectual disabilities and/or acquired brain damage. Thirty-five adults were assessed once off the drug and once when on LEV therapy, with a 2-month interval between assessments. Behaviors were rated using an adaptation of the Yale-Brown Obsessive Compulsive Scale and the Challenging Behaviour Scale. Challenging behaviors were rated as more frequent and severe when individuals were taking LEV. Behavioral worsening was not related to better seizure control or increased levels of engagement in activities. Families and professionals need to be aware of the potential reversible adverse effects of this drug.

Adult↗

Health status of Victorian special school children.

OBJECTIVE: This study sought to determine the health status and health needs of a sample of students attending special schools for the intellectually disabled in Victoria, Australia. METHODOLOGY: Two hundred and forty-nine students not previously seen by a Community Child Health Medical Officer (CCHMO) were assessed at school. Data on student, parent and staff needs were obtained through personal interviews and documented on a standard questionnaire. Health status was documented using data obtained from parents and teachers as well as the clinical assessment. RESULTS: Comparison of the number of problems reported by parents with the number confirmed at examination showed significant underreporting of vision, hearing and general medical problems. However, behaviour problems were nearly all reported. Many students had multiple problems with 63% having 2-4 problems and 11% having 5-8 problems. Ninety-nine (40%) of the 249 children seen had newly detected problems; vision (24), hearing (24) and obesity (9) were the most common. Two hundred and forty-four (98%) had known problems and 27% of these had insufficient information available from parents or staff to completely ascertain their health status. In 115 cases the primary problem was intellectual impairment of unknown cause. Down's syndrome was the next most common underlying diagnosis (30) followed by autism (24), epilepsy (21) and cerebral palsy (15). The most common secondary diagnoses were asthma (16), congenital heart defects (12), seizures (8) and skin problems (8). Many students required referral for further management both for newly detected problems (64%) and known problems (18%). Parents required counselling and/or discussion on a number of issues for both newly detected problems (66%) and known problems (39%); when counseling had taken place parent and staff concerns had reduced significantly by the time of the follow-up assessment. CONCLUSIONS: This study demonstrates that in those students with known intellectual impairment there were many with other unrecognized health problems and unmet needs. These findings have implications for health services provided to children attending special schools.

Abnormalities, Multiple↗