Effects of adult familiarity on social behaviours in Angelman syndrome

Background Individuals with Angelman syndrome appear strongly motivated by social contact, but there have been few studies that have examined the relationship between sociability and familiarity. In this study we compared social behaviour in Angelman syndrome when in contact with mothers and strangers. Methods We systematically manipulated adult familiarity, eye contact and speech to examine the effect on social approach behaviours in children with Angelman syndrome. Eleven children (deletion 15q11‐13) participated and were observed during interactions with their mother and an unfamiliar adult, while adult eye contact and talking were manipulated. Laughing and smiling, looking and social approach were observed. Results There was no effect of familiarity on laughing and smiling or eye contact. Participants showed more social approach towards their mother than the unfamiliar adult but only when their mother was looking at them. Conclusions In Angelman syndrome, looking at adults, laughing and smiling appear to be unaffected by the familiarity of the adult. However, approach behaviours are more common with mothers than strangers. The function of the approach behaviours might be to increase investment from the primary caregiver.     

Incontinence in individuals with Angelman syndrome: A comparative study

Frequency and type of incontinence and variables associated with incontinence were assessed in individuals with Angelman syndrome (AS; n = 71) and in a matched control group (n = 69) consisting of individuals with non-specific intellectual disability (ID). A Dutch version of the “Parental Questionnaire: Enuresis/Urinary Incontinence” (Beetz, von Gontard, & Lettgen, 1994) was administered and information on primary caretakers’ perspectives regarding each individual's incontinence was gathered. Results show that diurnal incontinence and fecal incontinence during the day more frequently occurred in the control group than in the AS group. In both groups, nocturnal enuresis was the most common form of incontinence. More incontinence was seen in individuals with AS who were younger, had a lower level of adaptive functioning and/or had epilepsy. Individuals with AS were able to stay dry for longer periods of time than the controls and often showed both in-toilet urination and urinary accidents during the day, whereas accidents and correct voids during the day were more set apart in the control group. Also, persons with AS had a lower micturition frequency implying possible voiding postponement. Both groups showed high rates of LUTS (lower urinary tract symptoms) possibly indicative of functional bladder disorders such as voiding postponement, dysfunctional voiding, or even an underactive bladder. In general, most primary caretakers reported severe intellectual disability as the main cause for urinary incontinence. Based on these results incontinence does not appear to be part of the behavioral phenotype of Angelman syndrome. Therefore, pediatric or urologic diagnostics and treatment are recommended for all persons with incontinence and intellectual disability. Further implications for practice and research are given.     

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.     

Neurovisual profile in children affected by Angelman syndrome

BackgroundAngelman syndrome (AS) is a rare neurogenetic disorder caused by altered expression of the maternal copy of the UBE3A gene. Together with motor, cognitive, and speech impairment, ophthalmological findings including strabismus, and ocular fundus hypopigmentation characterize the clinical phenotype. The aim of this study was to detail the neurovisual profile of children affected by AS and to explore any possible genotype-phenotype correlations.MethodsThirty-seven children (23 females, mean age 102.8 ± 54.4 months, age range 22 to 251 months) with molecular confirmed diagnosis of AS were enrolled in the study. All underwent a comprehensive video-recorded neurovisual evaluation including the assessment of ophthalmological aspects, oculomotor functions, and basic visual abilities.ResultsAll children had visual impairments mainly characterized by refractive errors, ocular fundus changes, strabismus, discontinuous/jerky smooth pursuit and altered saccadic movements, and/or reduced visual acuity. Comparing the neurovisual profiles between the deletion and non-deletion genetic subgroups, we found a significant statistical correlation between genotype and ocular fundus hypopigmentation (p = 0.03), discontinuous smooth pursuit (p < 0.05), and contrast sensitivity abnormalities (p < 0.01) being more frequent in the deletion subgroup.ConclusionsSubjects affected by AS present a wide spectrum of neurovisual impairments that lead to a clinical profile consistent with cerebral visual impairment (CVI). Moreover, subjects with a chromosome deletion show a more severe visual phenotype with respect to ocular fundus changes, smooth pursuit movements, and contrast sensitivity. Early detection of these impaired visual functions may help promote the introduction of neurovisual habilitative programs which can improve children’s visual, neuromotor, and cognitive outcomes.     

Using Behavioral Approaches to Assess Memory,Imitation and Motor Performance in Children with Angelman Syndrome: Results of a Pilot Study

ABSTRACT

Purpose: This study was designed to assess memory, imitation of motor actions and motor performance by 12 children (age range 40–151 months) with Angelman syndrome (AS), a rare neurogenetic disorder associated with learning and memory impairments. Methods: Children’s functioning was assessed at several time points over a 3-month period. Results: Memory and motor performance tests had acceptable test-retest and inter-rater reliability whereas the motor imitation test did not. Children were able to recall action sequences after a 24-h delay. Memory and motor performance scores were correlated with children’s chronological age and raw scores on subdomains of the Vineland-II. Conclusions: These behavioral tests require further development and evaluation but may show promise to accompany standardized assessments that are currently in use with children with AS.     

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.     

Adaptive functioning and behaviour problems in relation to level of education in children and adolescents with intellectual disability

Background The interrelationship between adaptive functioning, behaviour problems and level of special education was studied in 186 children with IQs ranging from 61 to 70. The objective was to increase the insight into the contribution of adaptive functioning and general and autistic behaviour problems to the level of education in children with intellectual disability (ID). Methods Children from two levels of special education in the Netherlands were compared with respect to adaptive functioning [Vineland Adaptive Behavior Scales (VABS)], general behaviour problems [Child Behavior Checklist (CBCL)] and autistic behaviour problems [Autism Behavior Checklist (ABC)]. The effect of behaviour problems on adaptive functioning, and the causal relationships between behaviour problems, adaptive functioning and level of education were investigated. Results Children in schools for mild learning problems had higher VABS scores, and lower CBCL and ABC scores. The ABC had a significant effect on the total age equivalent of the VABS in schools for severe learning problems, the CBCL in schools for mild learning problems. A direct effect of the ABC and CBCL total scores on the VABS age equivalent was found, together with a direct effect of the VABS age equivalent on level of education and therefore an indirect effect of ABC and CBCL on level of education. Conclusions In the children with the highest level of mild ID, adaptive functioning seems to be the most important factor that directly influences the level of education that a child attends. Autistic and general behaviour problems directly influence the level of adaptive functioning. Especially, autistic problems seem to have such a restrictive effect on the level of adaptive functioning that children do not reach the level of education that would be expected based on IQ. Clinical implications are discussed.     

Self-injurious behaviour in Cornelia de Lange syndrome: 1. Prevalence and phenomenology

Background   Self-injurious behaviour is frequently identified as part of the behavioural phenotype of Cornelia de Lange syndrome (CdLS). We conducted a case-control study of the prevalence and phenomenology of self-injurious behaviour (SIB) in CdLS.
Methods   A total of 54 participants with CdLS were compared with 46 individuals who were comparable on key variables including age, degree of intellectual disability and wheelchair use, using questionnaire and observational measures.
Results   Clinically significant self-injury was not more prevalent in the CdLS group (55.6%), nor was it different in presentation from that seen in the comparison group. Hyperactivity, stereotyped and compulsive behaviours predicted clinically significant self-injury in all participants. Hand directed, mild self-injury was more prevalent in CdLS.
Conclusions   The results show that clinically significant self-injury may not be part of the behavioural phenotype of CdLS but a specific body target for proto-SIB is more common.     

Health and sleep problems in Cornelia de Lange Syndrome: a case control study

Background Self‐injury, sleep problems and health problems are commonly reported in Cornelia de Lange Syndrome (CdLS) but there are no comparisons with appropriately matched participants. The relationship between these areas and comparison to a control group is warranted. Method 54 individuals with CdLS were compared with 46 participants with intellectual disability (ID) of mixed aetiology who were similar in terms of degree of ID, mobility, age and gender using informant‐based measures of health problems, sleep and self‐injury. Results Participants with CdLS experienced significantly more current and lifetime health problems with eye problems and gastrointestinal disorders prominent. Although 55% of those with CdLS experienced sleep problems this prevalence was not different from the comparison group. Sleep disorder was not associated with self‐injury in the CdLS group, skin problems were associated with severity of self‐injury but not presence. Discussion People with CdLS experience a range of significant health problems and have more health concerns than others with the same degree of ID. Although this has been well documented in the past, the current high prevalence of health concerns indicates the need for regular health assessment and appropriate intervention.     

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.     

Experimental functional analysis of aggression in children with Angelman syndrome

BackgroundKinship theory suggests that genomic imprinting could account for phenotypic behaviors that increase (in the case of Angelman syndrome) or decrease (for Prader-Willi syndrome) the drive to access social resources (adult contact) depending on the imprinting parent-of-origin. Difficult to manage behaviors, such as aggression that is common in Angelman syndrome, could serve the function of increasing social interaction. We hypothesise that the commonly reported aggressive behavior in children with Angelman syndrome will be attention maintained.MethodsExperimental functional analysis was carried out with twelve children with Angelman syndrome caused by either a deletion (n = 10) or uniparental disomy (n = 2).The relative increase and decrease of aggressive behaviors was observed in response to experimentally manipulated levels of adult attention and demand. Laughing and smiling, crying and frowning, and physical initiation with an adult were also measured.ResultsAggression was seen in ten of the twelve children. One child evidenced a pattern of aggression across conditions consistent with maintenance by attention, three children showed higher levels of aggression during social interaction and two children showed escape motivated aggression.DiscussionWith the exception of one child the results did not confirm the hypothesis. However, the pattern of increased aggression in the high social contact condition combined with evidence of positive affect during this condition suggests aggression may serve to both maintain and initiate social contact and this interpretation is consistent with previous research. The negative results may also have been influenced by the age of the children and the low levels of observed aggression.     

Behavioural flexibility in individuals with Angelman syndrome, Down syndrome, non-specific intellectual disability and Autism spectrum disorder

Background   Little is known about behavioural flexibility in children and adults with Angelman syndrome and whether people with this syndrome have more or less problems in being behaviourally flexible as compared with other people.
Method   Behavioural flexibility scores were assessed in 129 individuals with Angelman syndrome using 11 items from the Behavioural Flexibility Rating Scale-Revised ( Green et al. 2007 ). Level of behavioural flexibility scores in individuals with Angelman syndrome ( N  = 129) was compared with that of people with non-specific intellectual disability (ID) ( N  = 90), Down syndrome ( N  = 398) and Autism spectrum disorder ( N  = 235).
Results   Comparative analyses show that individuals with Angelman syndrome were more flexible than those with non-specific ID ( P  < 0.001) and those with Autism spectrum disorder ( P  < 0.01). There were no differences in behavioural flexibility scores between individuals with Angelman syndrome and those with Down syndrome ( P  = 0.94).
Conclusion   It is concluded that individuals with Angelman syndrome are comparatively flexible in their behaviour.     

Preschool children with intellectual disability: syndrome specificity, behaviour problems, and maternal well-being

Background Children with intellectual disability (ID) are at heightened risk for behaviour problems and diagnosed mental disorder. Likewise, mothers of children with ID are more stressed than mothers of typically developing children. Research on behavioural phenotypes suggests that different syndromes of ID may be associated with distinct child behavioural risks and maternal well-being risks. In the present study, maternal reports of child behaviour problems and maternal well-being were examined for syndrome-specific differences. Methods The present authors studied the early manifestation and continuity of syndrome-specific behaviour problems in 215 preschool children belonging to 5 groups (typically developing, undifferentiated developmental delays, Down syndrome, autism, cerebral palsy) as well as the relation of syndrome group to maternal well-being. Results At age 3, children with autism and cerebral palsy showed the highest levels of behaviour problems, and children with Down syndrome and typically developing children showed the lowest levels. Mothers of children with autism reported more parenting stress than all other groups. These syndrome-specific patterns of behaviour and maternal stress were stable across ages 3, 4 and 5 years, except for relative increases in behaviour problems and maternal stress in the Down syndrome and cerebral palsy groups. Child syndrome contributed to maternal stress even after accounting for differences in behaviour problems and cognitive level. Conclusions These results, although based on small syndrome groups, suggest that phenotypic expressions of behaviour problems are manifested as early as age 3. These behavioural differences were paralleled by differences in maternal stress, such that mothers of children with autism are at elevated risk for high stress. In addition, there appear to be other unexamined characteristics of these syndromes, beyond behaviour problems, which also contribute to maternal stress.     

Vineland Screener 0–12 years research version (NL). Constructing a screening instrument to assess adaptive behaviour

In Western countries the need to assess the adaptive behaviour of a wide range of individuals within the framework of research and policy‐making has increased in recent years. To meet this need a screener version of the Vineland Adaptive Behaviour Scales (VABS) was developed in the Netherlands. This screener is a questionnaire to be filled out by primary care‐givers. Using a limited number of items the instrument covers the four domains of adaptive behaviour portrayed in the original Expanded Version of the VABS. In this article the psychometric characteristics of this screener are determined in a non‐clinical population of children from 0 to 12 years using a sample of 984 children. Available data support the reliability and validity of the screener. Internal consistency of the domains and test–retest reliability are high: 0.90 or more. High intra‐class correlations between scores of mothers and fathers show that inter‐rater agreement is also satisfactory. Furthermore the domain scores contribute evenly to the composite score. The associations with chronological age/calendar age are strong. Correlations range between 0.80 and 0.95, implying that an increase in age linearly is related to an increase in adaptive behaviour. Newly born children obtain virtually no scores, and increase of scores levels off at different ages near the end of the intended age range. The results indicate that the screener is a promising research instrument to assess the adaptive behaviour of children by means of a short questionnaire filled out by their primary care‐givers. Copyright © 2009 John Wiley & Sons, Ltd.     

A 'learning platform' approach to outcome measurement in fragile X syndrome: a preliminary psychometric study

Background Clinical trials of medications to alleviate the cognitive and behavioural symptoms of individuals with fragile X syndrome (FXS) are now underway. However, there are few reliable, valid and/or sensitive outcome measures available that can be directly administered to individuals with FXS. The majority of assessments employed in clinical trials may be suboptimal for individuals with intellectual disability (ID) because they require face‐to‐face interaction with an examiner, taxing administration periods, and do not provide reinforcement and/or feedback during the test. We therefore examined the psychometric properties of a new computerised ‘learning platform’ approach to outcome measurement in FXS. Method A brief computerised test, incorporated into the Discrete Trial Trainer©– a commercially available software program designed for children with ID – was administered to 13 girls with FXS, 12 boys with FXS and 15 matched ID controls aged 10 to 23 years (mental age = 4 to 12 years). The software delivered automated contingent access to reinforcement, feedback, token delivery and prompting procedures (if necessary) on each trial to facilitate responding. The primary outcome measure was the participant's learning rate, derived from the participant's cumulative record of correct responses. Results All participants were able to complete the test and floor effects appeared to be minimal. Learning rates averaged approximately five correct responses per minute, ranging from one to eight correct responses per minute in each group. Test–retest reliability of the learning rates was 0.77 for girls with FXS, 0.90 for boys with FXS and 0.90 for matched ID controls. Concurrent validity with raw scores obtained on the Arithmetic subtest of the Wechsler Intelligence Scale for Children‐III was 0.35 for girls with FXS, 0.80 for boys with FXS and 0.56 for matched ID controls. The learning rates were also highly sensitive to change, with effect sizes of 1.21, 0.89 and 1.47 in each group respectively following 15 to 20, 15‐min sessions of intensive discrete trial training conducted over 1.5 days. Conclusions These results suggest that a learning platform approach to outcome measurement could provide investigators with a reliable, valid and highly sensitive measure to evaluate treatment efficacy, not only for individuals with FXS but also for individuals with other ID.