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PubMed1999

Diverse diagnostic and behavioural patterns amongst people with a dual diagnosis.

People who have both an intellectual disability and a mental illness diagnosis are gaining more attention in the mental health and developmental disabilities service systems. This interest is partly because of the challenging behaviours and the complexities of the problems in this population. The present study analyses the diagnoses, behaviour problems and demographic characteristics of a group of people with a dual diagnosis to determine if specific patterns are evident which distinguish this set of subjects. A group of 940 people who were part of a class action lawsuit in North Carolina, USA, were investigated. A factor analysis was conducted to determine whether or not distinct patterns or factors were evident. This analysis revealed six distinct patterns primarily based on the behaviour problems of this group and secondarily based on their diagnoses. These six factors are referred to as: (1) aggressive/disturbing behaviour; (2) withdrawal/asocial behaviour; (3) inappropriate behaviours; (4) sociopathic characteristics; (5) suicidal or runaway crises; and (6) pica disorder. The findings suggest that mental illness is a prominent characteristic of some of the six factors but not of others. Furthermore, an intellectual disability diagnosis and the particular level of intellectual disability are reflected very differently amongst all of these factors.

Adaptation, Psychological↗

PubMed1995

Relationships and social support: views of parents with mental retardation/intellectual disability.

From the professional perspective, parenting by people with mental retardation, or intellectual disability, is regarded with concern. Little attention has been paid to what constitutes social support for these parents. A qualitative design was used to explore views of parents with intellectual disability about their relationships and social support for their parenting. Most emphasis was placed on the support received from and given to their spouses or partners. Support was not always viewed as beneficial; rather, it was sometimes viewed as a restraint as well as a resource for parenting. Parents also exhibited a preferred sequence in seeking help, beginning with their partners, then family members, and, finally, professionals. Implications in light of policy and service provision were discussed.

Adolescent↗

PubMed2005

Factor structure of the Schalock and Keith Quality of Life Questionnaire (QOL-Q): validation on Mexican and Spanish samples.

BACKGROUND: The Quality of Life Questionnaire (QOL-Q) is used widely to evaluate the quality of life of persons with intellectual disability (ID). Its validity for use with Spanish-speaking cultures has been demonstrated for individuals with visual disabilities, but not for those with physical or intellectual disabilities. Such was the purpose of the present study. METHOD: Two samples were administered the QOL-Q under standardized procedures. The first sample was composed of 209 Mexican participants with physical disabilities; the second was composed of 424 Spanish participants with ID. The hypothesis tested was: the applicability (i.e. etic properties) of the measure across countries and respondents would be demonstrated if reliability data and if factor composition were similar to the original measure. Cronbach's alpha was used to test reliability and exploratory factor analyses were used to test validity (i.e. factor structure). RESULTS: Data indicated that the reliability and factor structure was similar to that reported in the questionnaire's standardization manual and consistent with that reported in a number of Anglo-Saxon countries. CONCLUSION: The present study offers additional support for the valid use of the QOL-Q with Spanish-speaking populations.

Adolescent↗

PubMed2003

Identity, difference and the ethical politics of prenatal testing.

This paper explores the role of identity in relation to the ethics of prenatal testing for conditions that cause intellectual disabilities. Specifically, it considers the question of identity and the moral status of the fetus. It argues that both the arguments in favour and opposed to prenatal testing mistakenly presuppose that there is no moral status attached to the fetus. That status is grounded in an identity-constituting characteristic, such as 'intellectual disability', which is brought about by the purpose of genetic testing, and the meaning of which is culturally constructed. This paper examines the implications this has for the debate around both prenatal testing and termination in general and considers the nature of the ethical politics which follows from this position with regard to prenatal testing related to intellectual disability.

Abortion, Induced↗

PubMed2005

The adult phenotype in Costello syndrome.

We report clinical findings in 17 adults with Costello syndrome ranging in age from 16 to 40 years. Two patients in this series have had bladder carcinoma, the only malignancy reported to affect adults with Costello syndrome. Benign tumors included multiple ductal papillomata in two women, and a fourth ventricle mass in one man, thought to be a choroid plexus papilloma. Endocrine problems in this series were osteoporosis, central hypogonadism, and delayed puberty. Other health problems were symptomatic Chiari malformations in three patients. Four patients had adult-onset gastro-esophageal reflux, three of whom had Chiari malformations. Fourteen adults had mild to moderate intellectual disability with three individuals having severe intellectual disability; 15 individuals attained some reading and writing skills and 14 showed ongoing acquisition of new skills into adulthood. On the basis of this data, we recommend that neuro-imaging be considered in adults with Costello syndrome if they develop symptoms suggestive of a Chiari malformation. In the event of pubertal delay, endocrine investigations are indicated and hormone treatment may be required. Bone density assessments should be performed in adults with Costello syndrome, particularly in those with pubertal abnormalities. Screening for microscopic hematuria as a marker for bladder carcinoma may be indicated, although this requires further evaluation.

Abnormalities, Multiple↗

PubMed2026

Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi-Omic Genomics.

TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities. Multi-omics analysis including genomics, transcriptomics, and proteomics, together with muscle biopsy from the affected individual, were used in this clinical case. Through trio exome sequencing we identified two heterozygous variants in the TECPR2 gene, NM_014844.4: c.480G>A; p.(Gln160=) and c.2846C>A; p.(Ala949Glu). Both were classified as variants of uncertain significance due to the lack of supporting evidence for pathogenicity. Subsequent long-read sequencing phased the variants and confirmed they were in trans. Additional functional studies using RNAseq and proteomics analyses verified the pathogenicity of the variants. This case study demonstrated the value of a multi-omics assisted analysis, which complemented the traditional phenotype-first approach in reaching a definitive clinical diagnosis.

Humans↗

PubMed2002

[Competitiveness in sports activities of the psychiatrically disabled].

In 2002, psychiatrically disabled athletes joined an historic first open game of volleyball at the national sports games for the disabled. Compared to the competitive sports and Paralympic Games that physically and intellectually disabled athletes have participated in, activities for the psychiatrically disabled have not been well-organized. In this paper, we examine a number of problems that have arisen when the psychiatrically disabled joined competitive sports games. We identify two major characteristics of the psychiatrically disabled of particular relevance when organizing competitive sports activities. First, all psychiatrically disabled athletes need treatment of their individual diseases. For example, psychiatric symptoms fluctuate markedly over time, unlike physical or intellectual disabilities, whose symptoms are much more stable. Exacerbations of psychiatric illness are also likely to occur due to the stresses of competitiveness. Second, psychiatric disabilities are manifestations of disorders in the central nervous system, which makes the classification of psychiatric disabilities less straightforward than classification of the physically disabled. These two characteristics require special attention when organizing competitive athletic challenges that include the psychiatrically disabled. However, promoting sports activities that include the psychiatrically disabled would be expected to reduce the prejudice toward and subsequent social disadvantages experienced by psychiatric patients. Thus, with careful planning to successfully integrate psychiatrically disabled athletes, we expect increased promotion of such sports activities in the future.

Competitive Behavior↗

PubMed2006

Learning disabilities and intellectual functioning in school-aged children with prenatal cocaine exposure.

Risk for developing a learning disability (LD) or impaired intellectual functioning by age 7 was assessed in full-term children with prenatal cocaine exposure drawn from a cohort of 476 children born full term and enrolled prospectively at birth. Intellectual functioning was assessed using the Wechsler Intelligence Scale for Children-Third Edition (Wechsler, 1991) short form, and academic functioning was assessed using the Wechsler Individual Achievement Test (WIAT; Wechsler, 1993) Screener by examiners blind to exposure status. LDs were categorized based on ability-achievement discrepancy scores, using the regression-based predicted achievement method described in the WIAT manual. The sample in this report included 409 children (212 cocaine-exposed, 197 non-cocaine-exposed) from the birth cohort with available data. Cumulative incidence proportions and relative risk values were estimated using STATA software (Statacorp, 2003). No differences were found in the estimate of relative risk for impaired intellectual functioning (IQ below 70) between children with and without prenatal cocaine exposure (estimated relative risk = .95; 95% confidence interval [CI] = 0.65, 1.39; p = .79). The cocaine-exposed children had 2.8 times greater risk of developing a LD by age 7 than non-cocaine-exposed children (95% CI = 1.05, 7.67; p = .038; IQ >/= 70 cutoff). Results remained stable with adjustment for multiple child and caregiver covariates, suggesting that children with prenatal cocaine exposure are at increased risk for developing a learning disability by age 7 when compared to their non-cocaine-exposed peers.

Alcohol Drinking↗

PubMed2004

Perinatal risk factors of adverse outcome in very preterm children: a role of initial treatment of respiratory insufficiency?

AIM: To investigate risk factors of adverse outcome in a cohort of very preterm children treated mainly with nasal continuous positive airway pressure (CPAP) during the neonatal course. METHODS: In Denmark, preterm children are treated with nasal CPAP as a first approach to respiratory support. A national prospective study of all infants with a birthweight below 1000 g or a gestational age below 28 wk born in 1994-1995 was initiated to evaluate this approach. Of the 269 surviving children 164 (61%) were not treated with mechanical ventilation in the neonatal period. A follow-up of the children at 5 y of age was conducted. Data from the neonatal period and the 5-y follow-up were analysed. RESULTS: In multivariate analyses including 250 children, a severely abnormal neonatal brain ultrasound scan was predictive of cerebral palsy (OR = 19.9, CI 95%: 6.1-64.8) and intellectual disability (OR = 6.2, CI 95%: 2.3-16.5). A high Clinical Risk Index for Babies (CRIB) score (OR = 2.4, CI 95%: 1.1-5.5) and chronic lung disease (OR = 2.8, CI 95%: 1.2-6.9) were predictive of intellectual disability. In univariate analyses mechanical ventilation was associated with cerebral palsy (OR=4.3, CI 95%: 1.7-10.8) and intellectual disability (OR = 2.2, CI 95%: 1.2-4.2), but the associations became insignificant in multivariate analyses including chronic lung disease and a severely abnormal ultrasound scan. CONCLUSION: The associations between neonatal risk factors and adverse outcome in our cohort were very similar to those found in other cohorts with another initial treatment of respiratory insufficiency. We found no significant adverse effects of mechanical ventilation beyond what could be explained by associations with chronic lung disease and IVH 3-4/PVL.

Cerebral Palsy↗

PubMed2005

The PAS-ADD Checklist: independent replication of its psychometric properties in a community sample.

BACKGROUND: The development of reliable, valid measures of psychopathology in people with intellectual disabilities is an important task. However, independent replication studies are rarely reported. AIMS: To report data on the psychometric properties of the Psychiatric Assessment Schedule for Adults with Developmental Disabilities (PAS-ADD) Checklist. METHOD: The PAS-ADD Checklist was completed for 226 adults as part of the assessment process for a specialist mental health service for people with intellectual disabilities. RESULTS: Internal consistency was acceptable. Factor analysis revealed one main factor that was characterised by items related to mood. The Checklist was sensitive to differences between diagnostic groups and had an overall sensitivity of 66%; its specificity was 70%. CONCLUSIONS: The PAS-ADD Checklist is a quick and easy to use screening tool. Although at present it is the best measure available, it should not be the only method used to identify psychiatric disorders in people with intellectual disabilities.

Adult↗

PubMed2006

Deinstitutionalisation and community living: progress, problems and priorities.

BACKGROUND: Deinstitutionalisation of services for people with intellectual disabilities has become a focus of disability policy in many countries. Research for the most part supports this strategy. However, outcomes are not uniformly better for everyone who moves to community living. This paper explores reasons for variability in service quality and highlights important lessons for countries starting to modernise services. METHOD: The effects of deinstitutionalisation are summarised and emerging problems identified. The changing context of different welfare-state models and paradigms in disability and public administration are outlined. RESULTS: The main changes which have impacted on the implementation of deinstitutionalisation include: the rise of market-based approaches to service provision, arrangements for rationing services, the "de-differentiation" of intellectual disability services, and the rise of a rights-based model in disability policy. CONCLUSIONS: The paper sets out priorities for the future development of community services. Success is likely to require a renewed focus on demonstrating improvement in the quality of life of people with intellectual disabilities and a change in the role of staff to provide more facilitative, enabling support of individuals, especially those with the most severe or complex disabilities.

Australia↗

PubMed2026

INPP5K-related muscular dystrophy caused by a novel synonymous splicing variant in a Chinese patient: a case report.

Congenital muscular dystrophies (CMDs) are a genetically heterogeneous group of disorders. Variants in the INPP5K gene, which encodes a phosphoinositide phosphatase, are a rare cause of CMD. The condition is commonly associated with muscle weakness, early-onset cataracts, and intellectual disability, and prior reports have primarily identified missense, frameshift, or deletion variants. We describe the first Chinese case of INPP5K-related muscular dystrophy in a 28-year-old male with a mild phenotype, notably lacking intellectual disability. His presentation included bilateral cataracts at age 5 and adolescent onset limb girdle weakness. Muscle magnetic resonance imaging (MRI) revealed a characteristic pattern of selective fatty infiltration, with severe involvement of gluteal and thigh muscles and striking sparing of the rectus femoris, sartorius, and gracilis. Genetic analysis identified compound heterozygous novel INPP5K variants: a missense c.274C>T, p.(Arg92Cys) and a synonymous c.261G>A, p.(Lys87=) change. Functional studies confirmed the synonymous variant causes aberrant splicing (exon 3 skipping), leading to a frameshift and premature termination p.(Leu52SerfsTer49). According to American College of Medical Genetics and Genomics guidelines, the c.274C>T and c.261G>A variants were classified as likely pathogenic and pathogenic, respectively. This first report of a Chinese patient with INPP5K-related muscular dystrophy broadens both the genetic and clinical spectrum of the disorder. We identify the first disease-causing synonymous variant (via aberrant splicing) and a novel hypomorphic missense variant p.(Arg92Cys), the combination of which explains the attenuated phenotype lacking intellectual disability. Our case highlights the critical role of RNA analysis in diagnosing non-canonical variants and confirms the universal diagnostic relevance of the characteristic muscle MRI pattern.

Adult↗

PubMed1999

Executive function and theory of mind performance of boys with fragile-X syndrome.

Fragile-X syndrome is the most common genetically inherited cause of intellectual disability. People with this syndrome typically show a behavioural profile of abnormal social interactions which are similar in some ways to those seen in people with autism. The present study investigated whether cognitive processes which have been hypothesized to underlie social abnormalities associated with autism are also impaired in boys with fragile-X syndrome without autistic spectrum disorders. Eight boys with fragile-X syndrome and eight with intellectual disability of unknown aetiology, matched on receptive verbal ability, age and with no diagnosis of autism, were tested on a battery of theory of mind and executive function tasks. Significantly more boys with fragile-X syndrome failed the simplest theory of mind task. However, this could be attributed to overall level of ability rather than group membership. No differences were found between the groups on any other measures used. A proportion of both groups failed first- and second-order false belief tasks. The performance of both groups on the executive function measure was at the floor of the test. At low levels of overall ability, the performance of boys with fragile-X syndrome and boys with intellectual disability of unknown aetiology may be more similar than they are different The implication of this result for clinical interventions is discussed.

Adolescent↗

PubMed2026

Biallelic ABCA13 Loss-of-Function Variants in a Child With Neurodevelopmental Delay: A Case Report.

ABCA13 encodes ATP-binding cassette subfamily A member 13, one of the largest members of the ABC transporter family. Rare ABCA13 variants have been reported in neuropsychiatric and neurodevelopmental phenotypes, including schizophrenia, bipolar disorder, autism spectrum disorder, intellectual disability, and developmental delay; however, the mode of inheritance remains uncertain, and most published cases have focused on heterozygous variants in the context of a possible dominant or susceptibility model. We report a 5-year-old boy with neurodevelopmental delay, skeletal foot deformities, nonspecific dysmorphic features, convergent strabismus, and behavioral abnormalities. Initial genome sequencing analysis was nondiagnostic. Reanalysis after 6 months identified two rare predicted loss-of-function variants in ABCA13 in trans: c.2510del, p.(Leu837TyrfsTer21), a frameshift variant, and c.12064C>T, p.(Arg4022Ter), a nonsense variant previously reported in a patient with unexplained intellectual disability. The identification of compound heterozygous predicted loss-of-function variants supports the possibility that biallelic disruption of ABCA13 may contribute to neurodevelopmental disease, whereas previously reported heterozygous variants may represent incompletely penetrant risk alleles, susceptibility factors, or candidate findings rather than fully penetrant dominant causes. This case expands the emerging clinical and genetic spectrum associated with ABCA13 and supports further evaluation of a recessive model in patients with intellectual disability and neurodevelopmental delay.

ABCA13↗

PubMedDate not supplied

Language and behavior in children with Sotos syndrome.

OBJECTIVE: To examine language and behavior in children with Sotos syndrome, an overgrowth syndrome involving advanced bone age, characteristic facies, and developmental disability. METHOD: Twenty-seven children with Sotos syndrome were compared with 20 children with overgrowth, intellectual disability, and facies not characteristic of Sotos syndrome. Ages ranged from 5 to 16 years. Direct assessment was undertaken with standardized measures of intelligence and language abilities. Behavior was examined by parent and teacher report. RESULTS: Children with Sotos syndrome had levels of intelligence in the severely disabled to average range, with the majority falling in the borderline range. Mean level of intelligence was significantly higher than that observed for children in the comparison group. Language abilities were developed to a level consistent with overall level of intelligence. Rates of parent- and teacher-reported behavior problems were significantly higher than normal, but, with the exception of temper tantrums, did not differ from those observed in children in the comparison group. Attention-deficit hyperactivity disorder was observed in 38% of children with Sotos syndrome. They were more irritable and had more stereotypic behavior and inappropriate speech than is expected in children with intellectual disabilities, and they were more withdrawn and had more stereotypic behavior than children in the comparison group. CONCLUSIONS: Assessment of language abilities revealed no specific language impairment. High rates of behavior problems were observed, but these were not higher than those observed for other large, delayed, dysmorphic children.

Abnormalities, Multiple↗

PubMed2005

An evaluation of specialized community-based residential supports for people with challenging behaviour.

This study explored the effects of relocation from institutional to specialized community-based residential provision for six men with mild to moderate intellectual disabilities and challenging behaviour and for a comparison group of six men with mild to moderate intellectual disabilities and challenging behaviour who were already living in specialized community-based residential provision. Relocation was associated with: (1) a significant increase in participants' domestic activity skills; (2) a decrease in the observed occurrence of some problem behaviours; (3) an increase in quality of life; and (4) an increase in engagement and staff contact. The community group, however, also showed some improvements over time, most notably in their levels of engagement in meaningful activity and staff contact. The implications of these results for service provision and suggestions for future research are discussed.

Adult↗

PubMed2002

Women with developmental disabilities: health and aging.

Major shifts have occurred in the world of disability that have profound implications for health-service provision. Although health researchers and clinicians have begun to address the health needs of women with disabilities, representation of older women with intellectual disabilities in health research and health-care practice remains inadequate. As the visibility of this group continues to grow through policies that support greater community integration and longevity, they and their families, professionals, and advocates will require more information about their health concerns, and appropriate health services and options. This article provides an overview of major issues of women with developmental disabilities within the areas of primary health care, aging, access to health services, and future directions in research and practice.

Aged↗

PubMedDate not supplied

Effects of synthetic speech output in the learning of graphic symbols of varied iconicity.

PURPOSE: To examine the effects of additional auditory feedback from synthetic speech on the learning of high translucent symbols versus low translucent symbols. METHOD: Two adults with little or no functional speech and severe intellectual disabilities served as participants. A single-subject ABACA/ACABA design was used to study the relative effects of two treatments: symbol training in the presence and absence of synthetic speech output. RESULTS: The results clearly indicated that the two treatments, rather than extraneous variables were responsible for gains in the symbol learning. Both participants learned either more low translucent symbols or reached their maximum learning of low translucent symbols in the speech output condition. CONCLUSIONS: The results of this preliminary study replicate and extend the iconicity hypothesis to a new set of learning conditions involving speech output, and suggest that feedback from speech output may assist adults with profound intellectual disabilities in coding particularly those symbols whose association with their referent cannot be coded via their visual resemblance with the referent.

Adult↗