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Cornelia de Lange syndrome (CdLS) is a congenital disorder characterized by distinctive facial features, growth retardation, limb abnormalities, intellectual disability, and behavioral problems. Cornelia de Lange syndrome is associated with abnormalities on chromosomes 5, 10 and X. Heterozygous point mutations in three genes (NIPBL, SMC3 and SMC1A), are responsible for approximately 50-60% of CdLS cases. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. The prevalence of autism spectrum disorder (ASD) symptomatology is comparatively high in CdLS. However, the profile and developmental trajectories of these ASD characteristics are potentially different to those observed in individuals with idiopathic ASD. A significantly higher prevalence of self-injury are evident in CdLS. Self-injury was associated with repetitive and impulsive behavior. This study describes the behavioral phenotype of four children with Cornelia de Lange syndrome and ASDs and rehabilitative intervention that must be implemented.

Research into the communication skills of individuals with Cornelia de Lange syndrome (CdLS) is extremely limited. This paper aims to evaluate the nature of these skills and impairments in CdLS using a detailed informant assessment of pre-verbal communication skills.

The study used the Pre-verbal Communication Schedule to evaluate communication skills in individuals with CdLS (n=14), aged five to14 years. The group was compared with a contrast group of individuals with Cri du Chat syndrome (CdCS; n=14) who were matched for age and intellectual ability.

A significant difference was identified in understanding non-vocal communication (p<0.005), with the CdLS group showing a greater deficit. These findings indicate the presence of a syndrome-specific deficit in understanding non-verbal communication in individuals with CdLS and suggest that there may be a dissociation between the processing of verbal and non-verbal communication.

The findings indicate that, in many ways, these two syndrome groups are not dissimilar in terms of their communication skills. However, individuals with CdLS show a syndrome-specific deficit in understanding non-vocal communication relative to the CdCS group.

This paper seeks to discuss the complexity of the relationship between genotype and phenotype and highlight the importance of a greater understanding of behavioural phenotypes in genetic syndromes. The aim is to explore the developmental trajectory of the behavioural phenotypes as individuals emerge from childhood into adulthood and beyond.

Information was gathered from a search of the relevant literature over the past 20 years using Medline and PsycINFO databases in May 2010 as well as information published in textbooks on this matter.

The outcomes were considered under five areas of functioning: cognition, communication, behaviour, social functioning and propensity to psychiatric illnesses. The research thus far suggests that outcomes in behavioural phenotypes in adults are extremely variable. Individual predictions are difficult to make. However, some trends do emerge.

Findings of particular interest are the rates of attention deficit hyperactivity disorder and autism spectrum conditions and how these change over the developmental trajectory. The paper highlights the need for further research in this area and discusses the need to view behavioural phenotypes as a continuum across the lifespan.

The area of behavioural phenotype research and related clinical practice is now recognised as one of high relevance to all practitioners who help people with learning disabilities, whatever their age. Knowledge continues to accumulate rapidly regarding aspects pertaining to aetiology, likely developmental, emotional and behavioural challenges, useful multidisciplinary interventions and supports and long‐term prognosis. This paper reviews the concept, its history and recent developments, focusing on those aspects which are of particular importance to clinical and other care and support professionals and their clients. There is a continuing need for widespread dissemination of the large body of relevant information, and its application to practice in order to maximise benefits for people with learning disabilities and their families.

This report explores the relationship between the autosomal recessive disorder Schwachman‐Diamond syndrome (SDS) and neurodevelopmental disorders such as attention deficit hyperactivity disorder (ADHD), autistic spectrum disorder (ASD), mixed receptive‐expressive language disorder and intellectual disability. It also reflects on the management of associated developmental, emotional and behavioural challenges. A six‐year‐old boy with SDS underwent comprehensive psychiatric and psychological assessment and was found to meet DSM‐IV‐TR (APA, 2000) diagnostic criteria for ADHD combined type and to have mild intellectual disability. A diagnosis of ASD was excluded. Management of his ADHD included psycho‐education, behaviour modification, educational recommendations and medication. This study adds to knowledge of Shwachman‐Diamond syndrome and management of co‐morbid neurodevelopmental disorders.

Associations between fetal alcohol syndrome (FAS) and other conditions have been reported, but the links between FAS and autistic spectrum disorders (ASD) remain unclear. This study explored the relationship between FAS and ASD in individuals attending a specialist diagnostic clinic. Consecutive referrals over 24 months to a specialist neurodevelopmental clinic were evaluated using gold standard methods for FAS diagnosis and ASD. The first 18‐month cohort who met criteria for ASD were compared with controls attending the same clinic but who had not experienced prenatal alcohol exposure (nested data). Data for the whole group were also collected. Twenty‐one fetal alcohol spectrum disorder (FASD) individuals were assessed and 16 (72%) met ICD‐10 criteria for childhood autism. Further significant differences between the prenatally exposed and non‐exposed group with ASD were found in the nested study. The research shows an association between heavy prenatal alcohol exposure and ASD. As this is a small sample in a specialist clinic, the study suggests that a larger, more population‐based study of those exposed to heavy prenatal alcohol is warranted.

This article examines the prevalence of mental disorders in a community and clinic population of adolescents with learning disabilities in one catchment area (in the UK). A two stage cross‐sectional survey was used. Measures included screening by parental report (Developmental Behaviour Checklist), adaptive behaviour (Vineland Survey Scale) and clinical interview (ICD 10 childhood disorders).Seventy‐five adolescents aged 12‐19 years old participated in the study. 50.7% screened positive for mental disorders, mainly in the disruptive and anti‐social domains. Almost all of those were found to have an identifiable ICD10 mental disorder. The most common diagnoses included pervasive developmental disorders, hyperkinetic disorder and emotional disorders. Male participants as well as those with autism were more likely to be reported as cases. Caseness was associated with lower adaptive level, presence of autism and family history of mental disorder.Rates of psychopathology are high in adolescents with learning disabilities. There are continuing difficulties in diagnostic ascertainment primarily due to mediation by developmental factors. Further research is necessary in order to clarify continuities of mental disorders in this population and to develop effective interventions.

Tuberous Sclerosis Complex (TSC) is associated with many learning, behavioural, neurodevelopmental and psychiatric difficulties. Over 90 per cent of those with TSC will have some of these concerns, yet typically no more than 20 per cent receive support and treatment. The purpose of this paper is to provide an overview of TSC-Associated Neuropsychiatric Disorders (TAND), explore barriers to identification and management of TAND, and propose possible next steps to improve assessment and treatment of TAND.

The paper combines a brief review of the multiple levels of TAND with a conceptual analysis of barriers and potential facilitators to assessment and intervention for TAND.

Results suggest that the perceived uniqueness of TAND leads to treatment paralysis for most healthcare professionals, thus explaining the assessment and treatment gap seen for TAND. This may in part be due to the multi-dimensionality of TAND, and in part due to lack of access to clear, useful and evidence-based resources for TAND.

Identification of natural TAND clusters through machine-based learning and data reduction methodologies may yield a manageable number of natural groups of TSC-related neuropsychiatric problems, for which a basic “toolkit” of evidence-based interventions could be developed.

Families and clinicians will benefit from a toolkit of tried and tested resources and evidence-based information to guide further investigation and management of TAND.

Even though individuals will have unique TAND profiles, there may be key natural TAND clusters – combinations of behaviours across multi-dimensional levels – that will simplify and improve access to further evaluation, treatment and neuroscientific research.

The purpose of this paper is to present a rationale for increasing initiatives for early intervention of emotional and behaviour difficulties.

The authors draw on existing literature regarding rates of emotional and behavioural difficulties together with risk factors and processes related to the development of such difficulties.

Rates of emotional and behavioural difficulties amongst children with learning and developmental difficulties are high. A combination of factors relating to the child, the family system, and wider social contexts is likely to account for this.

Increased attempts to provide early intervention to children with learning and developmental disabilities together with their families are warranted. Recommendations are made regarding how the development of such supports might best be taken forward.

Whilst drawing on pre-existing literature, the value of this paper is the way in which this has been drawn together to provide an overview of risk and development of behavioural and other difficulties amongst children with learning/developmental disabilities.