Social approach in pre‐school children with Williams syndrome: the role of the face

Background Indiscriminate social approach behaviour is a salient aspect of the Williams syndrome (WS) behavioural phenotype. The present study examines approach behaviour in pre‐schoolers with WS and evaluates the role of the face in WS social approach behaviour. Method Ten pre‐schoolers with WS (aged 3–6 years) and two groups of typically developing children, matched to the WS group on chronological or mental age, participated in an observed play session. The play session incorporated social and non‐social components including two components that assessed approach behaviour towards strangers; one in which the stranger's face could be seen and one in which the stranger's face was covered. Results In response to the non‐social aspects of the play session, the WS group behaved similarly to both control groups. In contrast, the pre‐schoolers with WS were significantly more willing than either control group to engage with a stranger, even when the stranger's face could not be seen. Conclusion The findings challenge the hypothesis that an unusual attraction to the face directly motivates social approach behaviour in individuals with WS.     

Development and behaviour in Marshall-Smith syndrome: an exploratory study of cognition, phenotype and autism

Background Marshall–Smith syndrome (MSS) is an infrequently described entity characterised by failure to thrive, developmental delay, abnormal bone maturation and a characteristic face. In studying the physical features of a group of patients, we noticed unusual behavioural traits. This urged us to study cognition, behavioural phenotype and autism in six patients. Methods Information on development, behavioural characteristics, autism symptoms, and adaptive and psychological functioning of six MSS children was collected through in‐person examinations, questionnaires, semi‐structured interviews of parents and neuropsychological assessments. Results Participants showed moderate to severe delays in mental age, motor development and adaptive functioning, with several similarities in communication, social interactions and behaviour. There was severe delay of speech and motor milestones, a friendly or happy demeanour and enjoyment of social interactions with familiar others. They exhibited minimal maladaptive behaviours. Deficits in communication and social interactions, lack of reciprocal social communication skills, limited imaginary play and the occurrence of stereotyped, repetitive behaviours were noted during assessments. Conclusions Systematic collection of developmental and behavioural data in very rare entities such as MSS allows recognition of specific patterns in these qualities. Clinical recognition of physical,developmental and behavioural features is important not only for diagnosis, prognosis and counselling of families, but also increases our understanding of the biological basis of the human physical and behavioural phenotype.     

Adaptive behaviour in Angelman syndrome: its profile and relationship to age

Background Angelman syndrome (AS) is a neurodevelopmental disorder usually caused by an anomaly in the maternally inherited chromosome 15. The main features are severe intellectual disability, speech impairment, ataxia, epilepsy, sleep disorder and a behavioural phenotype that reportedly includes happy disposition, attraction to/fascination with water and hypermotoric behaviour. Method We studied the level of adaptive behaviour and the adaptive behavioural profile in the areas of ‘motor skills’, ‘language and communication’, ‘personal life skills’ and ‘community life skills’ in a group of 25 individuals with genetically confirmed AS, to determine whether there is a specific adaptive behaviour profile. Results and conclusions None of the individuals, whatever their chronological age, had reached a developmental age of 3 years. A specific adaptive behaviour profile was found, with ‘personal life skills’ emerging as relative strengths and ‘social and communication skills’ as weaknesses.     

Integrative treatment in persons with intellectual disability and mental health problems

Background Clinical experience has proven thus far that a monodisciplinary treatment approach to behavioural and psychiatric problems in persons with intellectual disability (ID), such as psychotropic medication or behaviour modification programmes, has yielded limited success. It is clear that the complexity of behavioural and psychiatric problems in this population calls for a treatment approach from different perspectives. Methods A multidimensional treatment approach to the persons with ID who suffer from behaviour problems and psychiatric disorders is described. Results Four dimensions – biological, psychological, social and developmental – are represented as well in an integrative diagnosis as in an integrative treatment, embodied by cooperation of different professionals, such as a psychiatrist, psychologist, pedagogues, social worker, nurse and, where possible, the person’s caretakers. The developmental dimension receives a salient attention of assessors. By introducing the developmental dimension in diagnostics and treatment, the bio‐psycho‐social dimensions are set in a new context, more appropriate for persons with ID. Conclusion The integrative treatment should not be primarily directed towards the symptoms of the disorder but towards restoring a person’s mental well‐being. The disorder is combated through treatment of the underlying processes that have led to its onset. Different treatment methods from different perspectives may be applied. Strategy and methodological procedures of an integrative treatment are discussed by way of case presentations.     

Identification of personal factors that determine work outcome for adults with intellectual disability

Background Access to employment for people with intellectual disability (ID) has become a social priority. The aim of the present study is to try to determine which variables [sociodemographic variables, intelligence quotient (IQ), presence or absence of a psychiatric disorder, functioning, self‐determination, and behavioural problems] could most reliably account for access to remunerated employment of people with ID. Methods Two groups of people with ID participated in this study: (1) 69 workers in a sheltered‐employment programme; and (2) 110 clients of programmes in sheltered workshops. Both programmes were run by the Pardo‐Valcarce Foundation in Madrid (Spain). The following variables were assessed for every participant: IQ, functioning, behavioural problems, self‐determination and presence of psychiatric symptoms. A binary logistic regression analysis was carried out in order to identify the variables that best explained work outcome (sheltered workshop programme vs. sheltered employment programme). Results Although IQ showed no significant differences between the two groups of participants, the remaining variables did: behavioural problems, functioning, psychiatric symptoms and self‐determination significantly explained work outcome. As for sociodemographic variables, whereas gender did not show any significant relationship with the labour status of the participants, significant differences were found when considering variables such as age and pension benefits. Conclusions All the main variables considered, except IQ, turned out to be significant. Our findings should be considered encouraging, as they apparently show that both personal and social efforts can help individuals to overcome their low intellectual functioning in order to achieve access to employment. Such study highlights the importance of a prior psychopathological evaluation and efforts to enhance self‐determination in order to improve work inclusion for people with ID.     

Mental state attribution in schizophrenia: What distinguishes patients with “poor” from patients with “fair” mentalising skills?

PurposeAlthough many patients with schizophrenia are impaired in mental states attribution abilities, a significant number perform within normal or near-normal ranges in mental state attribution tasks. No studies have analysed cognitive or behavioural differences between patients with – to some extent – preserved mental state attribution skills and those with poor mentalising abilities.Material and methodsTo examine characteristics of “poor” and “fair” mentalisers, 58 patients with schizophrenia performed a mental state attribution task, a test of general intelligence, and two executive functioning tests. “Poor” and “fair” mentalising skills were defined according to a median-split procedure; the median score in the patient group was also within two standard deviations of the control group. In addition, patients’ social behavioural skills and psychopathological profiles were rated.ResultsPatients performing within normal or near normal ranges on the mental state attribution task had fewer social behavioural abnormalities than patients with poor mentalising abilities (even when controlled for intelligence), but did not differ in executive functioning. Fair mental state performers showed less disorganisation and excitement symptoms than poor performers. The degree of disorganisation mediated the influence of mental state attribution on social behavioural skills.ConclusionsSchizophrenia patients with (partially) preserved mentalising skills have fewer behavioural problems in the social domain than patients with poor mentalising abilities. Conceptual disorganisation mediates the prediction of social behavioural skills through mentalising skills, suggesting that disorganised patients may require special attention regarding social-cognitive skills training.     

Behavioural phenotype in Börjeson-Forssman-Lehmann syndrome

Background   Börjeson-Forssman-Lehmann syndrome (BFLs) is an X-linked inherited disorder characterised by unusual facial features, abnormal fat distribution and intellectual disability. As many genetically determined disorders are characterised not only by physical features but also by specific behaviour, we studied whether a specific behavioural phenotype exists in BFLs.
Methods   We studied in detail the behaviour of four molecularly proven BFLs patients, and reviewed available literature on BFLs specifically for behavioural characteristics.
Results   Behaviour in persons with BFLs is in general friendly, but can be challenging with externalising and thrill-seeking features. Social skills are good. However, variation among patients is wide. Three patients from a single family showed expressed hypersexual behaviour. This was not present in other patients.
Conclusion   In BFLs a specific behavioural phenotype exists and in behaviour general is challenging besides a friendly habit. Within single families more problematic behaviour may occur. Further behavioural and molecular analysis of a larger group of patients is warranted to determine whether a genotype-behavioural phenotype correlation exists.     

Emotional and behavioural problems in adolescents with intellectual disability with and without chronic diseases

Background   Adolescents with intellectual disability (ID) (ID-adolescents) and adolescents with chronic diseases are both more likely to have emotional and behavioural problems. The aim of this study was to assess the association between chronic diseases in ID-adolescents and emotional and behavioural problems in a large school-based sample.
Methods   We obtained data on 1044 ID-adolescents, aged 12–18 years, attending secondary schools in the Netherlands. Parents of the adolescents completed the Dutch version of the Strengths and Difficulties Questionnaire and questions about chronic diseases in their child and about the background of the child.
Results   Prevalence rates of emotional and behavioural problems were generally high in ID-adolescents with chronic diseases (45%), compared with ID-adolescents without chronic diseases (17%). The likelihood of emotional and behavioural problems was high in ID-adolescents with two [odds ratios (OR) 4.47; 95% CI: 2.97–6.74] or more than two chronic diseases (OR 8.01; 95% CI: 5.18–12.39) and for ID-adolescents with mental chronic diseases (OR 4.56; 95% CI: 3.21–6.47). Also ID-adolescents with somatic chronic diseases had a high likelihood of emotional and behavioural problems (OR 1.99; 95% CI: 1.33–2.99), in particular in the combination of somatic and mental chronic diseases (OR 5.16; 95% CI: 3.46–7.71).
Conclusions   The current study showed that chronic diseases in ID-adolescents, in particular mental chronic diseases, largely increase the likelihood of emotional and behavioural problems. This should be taken in the provision and planning of care for ID-adolescents.     

Wandering and dementia

Wandering represents one of many behavioural problems occurring in people with dementia. To consider the phenomenon of wandering behaviour in demented patients, we conducted searches using Medline and Google Scholar to find relevant articles, chapters, and books published since 1975. Search terms used included ‘wandering’, ‘behavioural and psychological symptoms’, ‘dementia’, ‘nursing’, and ‘elopements’. Publications found through this indexed search were reviewed for further relevant references. The term ‘wandering’ covers different types of behaviour, including aimless movement without a discernible purpose. It is associated with a variety of negatives outcomes. The aetiology of wandering is poorly understood and it remains an unsolved riddle. Wandering is an acutely distressing problem worldwide, both for the patients and caregivers, and it is a major reason for nursing home admission. Evidence on the effectiveness of pharmacological and non‐pharmacological interventions is limited. It is possible that management of coexistent psychopathology would help to ameliorate this problematic behavioural disorder.     

Associations between the mental health and social networks of children and parents in single-parent families

The parents and children in single-parent families were studied. A group of 39 children ages 9–16 years who had been patients at a child and adolescent psychiatric clinic and a control group with an equal number of children were interviewed together with their single parent regarding social network and mental health. The networks of children and parents in the control group were more similar to each other than the networks of parents and children in the patient group. The crosswise influence of parents’ mental health, children's behavioural disturbances and social networks showed associations between parents’ mental health and children's behavioural disturbances, between parents's social networks and children's behavioural disturbances and between parents’ mental health and their social networks. There was, on the other hand, no association between parents’ mental health and the social networks of their children.     

The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals

Background Few studies have investigated functional and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample of individuals. The aim of this study is to provide greater insight into the clinical, behavioural and cognitive characteristics that are associated with CdLS. Methods In total, 56 individuals with CdLS participated in the study. During hospitalization, their mothers received a number of questionnaires to complete. The behavioural phenotype was investigated using the following scales: Developmental Behaviour Scale Primary Carer Version; Autism Behaviour Checklist; Childhood Autism Rating Scale. Results Our participants demonstrated some behavioural characteristics that are frequently associated with CdLS (hyperactivity, attention disorder, anxiety, compulsive disorders, self-injurious behaviour and autistic-like features). Our findings demonstrate the variability of behavioural characteristics in CdLS in addition to highlighting the contribution of some variables to both the CdLS behavioural profile and the developmental trajectory of the behavioural pattern. Conclusions The behavioural characteristics identified in our sample were correlated with some clinical and functional aspects (chronological age, cognitive level and clinical phenotype). The variability of the behavioural profile in CdLS reflected the wide variability in cognitive and adaptive functioning across individuals and led us to conclude that there may be multiple behavioural phenotypes associated with the syndrome. Further comparative studies between CdLS and individuals with intellectual disability or other genetic syndromes may help to provide further understanding of the behavioural phenotype of CdLS.     

Caregiving burden of families looking after persons with intellectual disability and behavioural or psychiatric problems

Background During the last decade, there has been a growing interest in outpatient support services for persons with intellectual disability (ID) and psychiatric and/or behavioural problems and their families. In this study, we explore the family burden that is associated with children or adults with ID and behavioural or psychiatric problems living at home. Method The research group consisted of 66 clients of In Casa, a project of outpatient treatment. Their average age is 18.97 years and their average IQ 55.37. The Reiss Screen for Maladaptive Behaviour (adults) or Reiss Scales for Children's Dual Diagnosis (children) and the Nijmegen Family Situation Questionnaire have been administered. Results About 62% of the children and 86% of the adults living at home and referred to In Casa have severe psychiatric or behavioural problems as measured by the Reiss scales. The dual diagnosis has a more negative impact on the family situation than the condition of ID only. Conclusion Parents consider the psychiatric or behavioural problems of their child to be an extra burden and feel it more difficult to raise and manage such a child. This impels them to change the situation and to call on the help of external services. Some methodological questions and the implications of the findings in terms of support needs are discussed.     

Intrusive fathering,children's self‐regulation and social skills: a mediation analysis

Background Fathers have unique influences on children's development, and particularly in the development of social skills. Although father–child relationship influences on children's social competence have received increased attention in general, research on fathering in families of children with developmental delays (DD) is scant. This study examined the pathway of influence among paternal intrusive behaviour, child social skills and child self‐regulatory ability, testing a model whereby child regulatory behaviour mediates relations between fathering and child social skills. Methods Participants were 97 families of children with early identified DD enrolled in an extensive longitudinal study. Father and mother child‐directed intrusiveness was coded live in naturalistic home observations at child age 4.5, child behaviour dysregulation was coded from a video‐taped laboratory problem‐solving task at child age 5, and child social skills were measured using independent teacher reports at child age 6. Analyses tested for mediation of the relationship between fathers' intrusiveness and child social skills by child behaviour dysregulation. Results Fathers' intrusiveness, controlling for mothers' intrusiveness and child behaviour problems, was related to later child decreased social skills and this relationship was mediated by child behaviour dysregulation. Conclusions Intrusive fathering appears to carry unique risk for the development of social skills in children with DD. Findings are discussed as they related to theories of fatherhood and parenting in children with DD, as well as implications for intervention and future research.     

The behavioural profile of psychiatric disorders in persons with intellectual disability

Background Problems associated with psychiatric diagnoses could be minimized by identifying behavioural clusters of specific psychiatric disorders. Methods Sixty persons with intellectual disability (ID) and behavioural problems, aged 12–55 years, were assessed with standardized Indian tools for intelligence and adaptive behaviour. Clinical diagnoses were conferred as per International Classification of Diseases – 10th Revision (ICD-10) criteria. Subsequently Reiss Screen for Maladaptive Behaviors (RSMB) and AAMD Adaptive Behavior Scale-Part II were administered independently. Results Aggression and rebellious behaviours were more common in affective disorders and personality disorders. Psychotic and paranoid features were significantly more in psychosis group. Those with behavioural problems had significantly low scores on the sub-scales of RSMB. Conclusion RSMB and AAMD Adaptive Behavior Scale-Part II will be useful to identify behavioural clusters, which will complement clinical psychiatric diagnoses in individuals with ID.     

Psychological treatment of reported sleep disorder in adults with intellectual disability using a multiple baseline design

Background The literature on sleep disturbance in adults with intellectual disability (ID) is sparse. Although prevalence rates for sleep disorders appear similar to those of non‐disabled populations, previous treatment studies have largely been comprised of uncontrolled cases. Therefore, the present study adopted a single‐case experimental methodology to evaluate behavioural sleep intervention. Methods A screening questionnaire was posted to 384 adults with ID and the sleep pattern of respondents with possible sleep disorders was further assessed using a structured diagnostic schedule. From the sleep‐disordered subgroup, 12 participants were selected for a 4‐week behavioural sleep intervention that was evaluated using randomly allocated, multiple‐baseline, across‐subjects designs and within‐subject interrupted time series analyses (ITSAs). Results A total of 155 adults with ID (83 females and 72 males; mean age = 32 years, SD = 16.5 years), or their carers, completed the questionnaire (return rate = 40%). The application of sleep diagnostic criteria revealed that 17% had clinically significant difficulty getting to sleep and 11% had difficulty remaining asleep. Nine out of the 12 participants recruited for the intervention completed all the experimental phases, thus providing three sets of three multiple‐baseline designs. Visual inspection of within‐ and between‐subject effects suggested beneficial treatment‐specific effects across a range of target variables. The ITSA confirmed significant effects (P < 0.05) or trends (P < 0.10) for six out of the nine participants. Conclusions Behavioural sleep management may improve sleep pattern or sleep‐related functioning in the majority of adults with ID who have significant sleep problems. The single‐case methodology is helpful in addressing the heterogeneity of individual presentation, although clinical trial methodology is required to confirm these findings on a larger scale.     

Socio‐cognitive understanding: a strength or weakness in Down's syndrome?

Background Social understanding is often thought to be relatively ‘protected’ in children with Down's syndrome (DS) and to underlie the outgoing personality characteristically attributed to them. This paper draws together findings from our studies of behaviours during object concept testing, generally considered a theoretically ‘pure’ measure of early cognitive ability, and from more recent work focusing on two key socio‐cognitive skills: recognising facial expressions of emotion and collaborative learning. Age range of children studied was 4 months to 18 years. Methods Using standardised hiding tasks, object concept ability was assessed cross‐sectionally and longitudinally in children with DS and in age‐ or stage‐matched typically developing (TD) children. Stability of cognitive advances was assessed and similarities/differences in developmental pathways explored. In the emotion recognition studies, the ability to distinguish six primary emotions was measured, with performance compared with that of developmentally‐matched TD children and age‐matched children with intellectual disabilities of similar severity but differing aetiology [non‐specific intellectual disability (NSID) or fragile X syndrome (FXS)]. In the collaborative learning study, the impact on sorting skills of working with a peer on a conceptually related task was measured, with outcomes compared in DS, NSID and TD child pairings. Results Evidence of counterproductive, socially‐based strategies being inappropriately applied by children with DS in learning contexts was found in both the object concept and collaborative learning studies, along with inefficient use of current cognitive and linguistic abilities. Emotion recognition weaknesses were also identified, although deficits were relative rather than absolute and individual variability was marked. Conclusions In line with emerging evidence from other research teams, findings suggest possible difficulties in some core aspects of interpersonal functioning in DS, with both qualitative and quantitative differences in how social cognition develops and is applied in learning contexts. Implications for development and for behavioural phenotype theory are briefly discussed.