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The aim of this paper is to provide an overview of the dominant approaches used to explain causes of challenging behaviour.

This paper is the second in a two‐part series. It presents the causes of challenging behaviour according to the three theoretical approaches that have dominated the literature: applied behaviour analysis; biological factors; and psychiatric disorders.

It is apparent that the causes of challenging behaviour are likely to be complex and involve multiple factors. The approaches that have dominated the literature focus on single causes and do not explore possible interactions between various causes. Given the shortcomings of existing approaches, a fourth approach, the biopsychosocial model, is proposed as an alternative model to explain the causes of challenging behaviour.

This paper is the most recent of only a few providing an overview of the various approaches that seek to explain the causes of challenging behaviour.

The purpose of this paper is to establish the value of clinical genetic diagnostics in the lives of people with an intellectual disability (ID), their families, and their primary and professional caregivers. It has been shown that psychologists are more likely to make use of the opportunities offered by clinical genetic diagnostics if they have seen the psychological benefits in their own practice. Moreover, this paper aims to promote the practice of informing people with ID, their families, and other caregivers regarding the current technological advances in genetic diagnostics, thereby allowing these patients to decide for themselves whether to utilise these opportunities.

The authors report four case studies in which the psychosocial value to each patient is pivotal.

In these four cases, it is clear the medical model can augment the social model by providing an interpretation of its meaningfulness in the lives of the people concerned.

Case studies alone can have limited scientific significance. This approach examining the significance of clinical genetic diagnosis should be studied further in larger groups.

It is hoped that psychologists and other professional caregivers will become enthused about the value of clinical genetic diagnostics and will choose to discuss the option of referral for clinical genetic diagnostics with their patients more often.

People with an ID who are seeking mental health care, and their caregivers, should be given the opportunity to take part in the decision regarding whether to use clinical genetic diagnostics, which may even have a destigmatising effect.

Quality of life may improve for people with an ID seeking mental healthcare and for their caregivers as well by opening up discussion regarding the opportunities presented by clinical genetic diagnostics. The fact that people are able to make their own choices based on their own considerations can have a destigmatising effect.

Tuberous sclerosis complex (TSC) is a genetic disorder with a high prevalence of autism spectrum disorder (ASD), yet no single genetic, neurological or neurophysiological risk marker is necessary or sufficient to increase risk for ASD. This paper aims to discuss the utility of adopting a developmental perspective.

The increasing number of TSC infants presenting with abnormalities prenatally provides a unique opportunity to study risk pathways to ASD from birth. Here, the authors review findings to date that support the investigation of infants with TSC to further our understanding of typical and atypical development.

Evidence has accumulated from studies of infants at familial risk for ASD (“baby siblings”) to suggest that early markers of ASD are present in the first year of life. The early waves of prospective studies of infants with TSC indicate dynamic changes in developmental trajectories to ASD and are likely to provide insight into cascading effects of brain “insult” early in development. Emerging evidence of phenotypic and biological homology between syndromic and idiopathic cases of ASD supports the notion of a convergence of risk factors on a final common pathway in ASD.

The delineation of brain-based biomarkers of risk, prediction and treatment response in TSC will be critical in aiding the development of targeted intervention and prevention strategies for those infants at high risk of poorer developmental outcomes.

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 behavioral phenotype of fragile X syndrome (FXS) and intellectual disability (ID) proposed by Hagerman et al. (2009) was primarily based on data from male children and teens. The purpose of this study was to promote a better understanding of how this condition manifests in adults.

A total of 18 men of FXS were paired with men with Down syndrome on the basis of age and level of ID. A screening checklist was created on the basis of existing scales and the Hagerman et al. (2009) behavioral phenotype and completed by care providers.

Five of the 12 features of the phenotype were significantly more present among men with FXS than in men with Down syndrome.

This study provides partial confirmation for Hagerman et al.’s (2009) behavioral phenotype of FXS among men with moderate ID and identified some traits that warrant further investigation.

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.

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.

This article focuses on the consequences of having FraX‐E, the rare but well recognised variant of fragile X syndrome. The authors provide some background on the condition and report on recent research and evidence. Three case reports are outlined and the specific behavioural aspects of the syndrome are considered. The authors argue that it is important that the behavioural phenotype for FraX‐E is clearly identified and defined in order to give those with the condition relevant psychological and educational support in the future.

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.