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There is a lack of measures that reflect the intervention priorities of parents of children with autism spectrum disorder (ASD) and that assess the impact of interventions on family experience and quality of life. The Autism Family Experience Questionnaire (AFEQ) was developed through focus groups and online consultation with parents, and reflected parental priorities. It was then administered to the parents of children enrolled in the Pre-school Autism Communication Trial and its 6-year follow-up study. The AFEQ showed good convergent validity with well-established measures of child adaptive functioning, parental mental health and parental wellbeing. It was sensitive to change in response to a parent-mediated intervention for young children with autism, showing treatment effect at treatment endpoint which increased at six-year follow-up.

This study describes the profile of repetitive behaviour in individuals with Williams syndrome, utilising cross-syndrome comparisons with people with Prader-Willi and Down syndromes. The Repetitive Behaviour Questionnaire was administered to caregivers of adults with Williams (n = 96), Prader-Willi (n = 103) and Down (n = 78) syndromes. There were few group differences, although participants with Williams syndrome were more likely to show body stereotypies. Individuals with Williams syndrome also showed more hoarding and less tidying behaviours than those with Down syndrome. IQ and adaptive ability were negatively associated with repetitive questioning in people with Williams syndrome. The profile of repetitive behaviour amongst individuals with Williams syndrome was similar to the comparison syndromes. The cognitive mechanisms underlying these behaviours in genetic syndromes warrant further investigation.

The WHO Quality of Life-Brief questionnaire was used to assess quality of life (QoL) among 52 adults with autism (mean age 49 years) followed-up since childhood. Overall, assessments of QOL were more positive than measures of objective social outcome (jobs, independence, relationships etc.) but correlations between caregiver and self-reports were low. Informant ratings indicated few correlations between current QoL and any child or adult factors. On self-report ratings, QoL was significantly negatively correlated with severity of repetitive behaviours in childhood; higher QoL was positively associated with better adult social outcomes. However, only a minority of adults (n = 22) could provide self-report data and findings highlight the need to develop valid measures for assessing the well-being of adults with autism.

Background: Recent research suggests that around 16% to 18% of children with Down syndrome (DS) also meet diagnostic criteria for autism spectrum disorder (ASD). However, there are indications that profiles of autism symptoms in this group may vary from those typically described in children with ASD. Method: Rates of autism symptoms and emotional and behavioural problems among children with DS who screened positive for ASD on the Social Communication Questionnaire (SCQ) (n = 183) were compared with a group of children with clinical diagnoses of ASD (n = 189) attending specialist schools in the UK. Groups were matched for age and approximate language level (use of phrase speech). Results: Profiles of autistic symptoms in the two groups were generally similar, but children with DS meeting ASD cut-off on the SCQ tended to show fewer problems in reciprocal social interaction than those in the ASD group. They also showed slightly lower rates of emotional and peer-related problems. The results mostly confirm findings from a previous study in which the original validation sample for the SCQ was used as a comparison group. Conclusion: Findings suggest that children with DS who meet screening criteria for ASD show similar profiles of communication and repetitive behaviours to those typically described in autism. However, they tend to have relatively milder social difficulties. It is important that clinicians are aware of this difference if children with DS and ASD are to be correctly diagnosed and eligible for specialist intervention and education services.

Data on psychiatric problems in adults with autism are inconsistent, with estimated rates ranging from around 25% to over 75%. We assessed difficulties related to mental health in 58 adults with autism (10 females, 48 males; mean age 44?years) whom we have followed over four decades. All were of average non-verbal intelligence quotient when diagnosed as children. Overall ratings of mental health problems were based on data from the Family History Schedule (Bolton et al., 1994). Informant reports indicated that many of the cohort (44%) had experienced no mental health problems in adulthood; 28% had experienced mild to moderate difficulties, 23% had severe and 5% very severe problems. Depression was the most commonly reported problem. Among those adults (n?=?22) able to report on their own mental state, again many (45%) reported no mental health problems, although 27% reported very severe mental health problems related to anxiety, depression and/or obsessive-compulsive symptoms. Informant ratings of poor mental health were not associated with gender, severity of autism in childhood, or child or adult intelligence quotient, but there were small correlations with overall social functioning (rho?=?0.34) and current autism severity (rho?=?0.37). The findings highlight the difficulties of assessing mental health problems in adults with autism and the need for appropriately validated measures.

BACKGROUND: Although there has been considerable research into the genotype and phenotype of Williams syndrome, there have been relatively few studies of long-term prognosis. As a preliminary to a more detailed investigation of adults with Williams syndrome, a parental questionnaire was distributed to members of the UK Williams Syndrome Foundation, focusing on areas of skill and difficulties in adult life. METHOD: A postal questionnaire was distributed to all members of the UK Williams Syndrome Foundation who had a son or daughter aged 18years or over. The questionnaire covered issues related to the physical and mental health of the adults with Williams syndrome, together with questions about educational and employment status, self-help and independence skills. RESULTS: Out of a total of 290 questionnaires distributed, 239 were returned (82% response rate). The data highlighted the continuing high rates of physical problems in this group and apparent increases in rates of mental health problems with age. Parents also expressed their concerns about the lack of adequate support and care. Educational and employment attainments were generally low and self-help skills were relatively poor. DISCUSSION: The findings highlight the need for far better understanding of conditions such as Williams syndrome among professionals working in adult services and the need for more adequate support from educational, health and social services.

Increasingly, recent research has identified relatively high rates of autistic types of symptoms in a variety of genetic conditions, such as fragile X (Turk and Graham, 1997), tuberous sclerosis (Bolton and Griffiths, 1997), Angelman syndrome (Trillingsgaard and Ostergaard, this issue) and others (see Gillberg and Coleman, 2000). Detailed information about genetic conditions that have a higher than expected association with autism is likely to play at least some role in the search for genetic markers. However, such research is time consuming and costly, and before conducting comprehensive investigations on conditions that might have some association with autism, some means of determining whether a particular disorder has more than a chance relationship is required. In the present study the SCQ was used as a screening instrument to detect the possible presence of autistic symptoms in individuals with Cohen syndrome in order to determine whether a more detailed investigation of autistic symptomatology was warranted. Although eight families had at one stage been given a diagnosis of autism for their child, and the Cohen Syndrome Support Group was also aware of the findings of the earlier pilot study, indicating high rates of autistic symptomatology (Howlin, 2001), most parents in the study had neither sought nor been given a diagnosis of autism. They were thus far more na?ve than the parents involved in the study of Berument et al. (1999) who had already been interviewed on the ADI?R before completing the SCQ. Nevertheless, those individuals who scored at or above the PDD criterion on the SCQ were in every case confirmed as meeting criteria for an autistic spectrum disorder when they were subsequently assessed on the ADOS and ADI?R. The association was equally robust for individuals with moderate to severe learning difficulties and for those whose IQ scores fell within the mild to low average range. These findings suggest that the SCQ could well prove of value in ntal disorders, in order to determine whether further diagnostic assessment of autistic-type symptoms is warranted. It can be used as a postal questionnaire and is easy to complete. For example, in the initial stages of the project, when it was sent to the families of 76 individuals all but six returned it, fully completed. The high rate of false negatives (individuals who do not meet criteria on the SCQ but subsequently meet criteria for autism/autistic spectrum disorders on the ADI?R or ADOS) is clearly a problem, but it should be noted that in three of the six cases in which disagreement occurred, there were also discrepancies between the ADOS and ADI?R ratings. It may be that the sensitivity of the SCQ is reduced when used with individuals in whom the presence of autistic symptoms is more equivocal. Nevertheless, the findings indicate that, at least within this particular clinical group, if an individual met cutoff for PDD on the SCQ, that individual also met criteria for autism/autistic spectrum disorder on more detailed and well-validated interview and observational measures. Clearly, sample size was small and Cohen syndrome is a rare disorder, so that the findings may not be upheld in groups with other genetic conditions. However, the data certainly indicate the potential value of this instrument for identifying autistic spectrum disorders associated with other genetic or developmental conditions, or for comparing rates of autistic features between different conditions.

Increasing numbers of children with autism spectrum disorder (ASD) are diagnosed in the preschool years, and their educational progress must be monitored. Parent questionnaire data can augment psychometric assessments and individual planning at low cost. One hundred and twenty-five parents of UK children who entered dedicated autism primary schools and units in two consecutive calendar years were asked to complete three questionnaires. Fifty-seven parents repeated the questionnaire measures one year later. Encouraging developmental progress was observed on the Vineland Adaptive Behavior Scales-Screener. Symptom severity as measured by the Social Communication Questionnaire did not change over time. The pattern of change scores on the Autism Treatment Evaluation Checklist was mixed, and confounding disadvantages this questionnaire. The study demonstrated that it is possible to collect useful information on the progress of children with ASD using parents as informants. Such data would assist in judging claims regarding developmental progress within particular programmes.

Background: Research suggests that adults with autism tend to have poor outcomes. Outcomes have mostly been defined using summary outcome ratings, with less focus on specific outcomes such as employment, living situation, social satisfaction, loneliness, and friendships. This study aimed to explore social and community outcomes, including employment, education, living arrangements, friendships, and social satisfaction, for autistic adults with and without intellectual disability. Method: Eighty‐four adults with autism (mean age 34.2 years, SD = 4.5; 67% with co‐occurring intellectual disability), recruited as children and adolescents, participated in the current study. Adult social and community inclusion outcomes were explored through interview and questionnaire, both parent/carer‐report and self‐report. Results: Participants predominantly lived with family or in supported accommodation, did not pursue higher education, and mostly participated in day activity programmes. Most had limited friendships as reported by parents/carers; however, self‐report data (n = 28) indicated that adults were largely satisfied with their social relationships. Overall outcome was poor for 57%, and good/very good for 34%. Adults with intellectual disability generally had poorer outcomes. Conclusion: Autistic adults encountered numerous difficulties in leading an independent life. Adults with co‐occurring intellectual disability were most likely to experience difficulties; however, outcomes ranged from poor to very good for adults without intellectual disability. Discrepancies in parent/carer‐report and self‐reported experiences of friendships highlight the need to ensure individual experiences are captured in addition to parent/carer‐report. Appropriate resources and programmes are crucial for adults with autism to support them to have the choice to live independently. [ABSTRACT FROM AUTHOR]

Background: Sleep problems are common in many neurodevelopmental disorders, but little is known about how sleep is related to behavioural symptoms in Angelman syndrome (AS) or other genetic disorders. Hyperactive behaviour, sleep problems and epilepsy seem to be more common in AS than in other genetic conditions associated with severe intellectual disability. We hypothesised that both more sleep problems and earlier onset of epileptic seizures would predict more symptoms of hyperactivity. Hence, the aim of the project was to explore the association between hyperactive behaviour, sleep problems and age of epilepsy onset in individuals with AS. Method: All known parents/guardians (n = 115) of individuals with AS in Norway were invited to participate in this descriptive correlational study. Fifty‐six individuals (49%) responded, and 42 people (25 male and 17 female; mean age 18.5 years, range 2–57 years) with genetically verified AS were included. Scores for 'hyperactivity' and 'sleep problems' were derived from questionnaire data. Information on epilepsy was obtained from medical records. Results: 'Hyperactivity' was positively correlated with 'total sleep problems' (r = 0.46, P = 0.002) and negatively correlated with 'age of epilepsy onset' (r = −0.47, P = 0.01). 'Age of epilepsy onset' was not correlated with 'total sleep problems'. An overall multiple regression model with 'hyperactivity' as the dependent variable and 'age of epilepsy onset' and 'total sleep problems' as covariates was significant (R2 = 0.39, F = 8.16, P = 0.002). Hence, hyperactivity in AS could be predicted from both age of epilepsy onset and current sleep problems. Conclusions: Sleep problems may increase hyperactivity symptoms in individuals with AS. The association between hyperactivity and sleep problems in AS indicates that both should be investigated together as part of routine clinical assessment and intervention for either area of difficulty. Younger age of epilepsy onset was associated with more hyperactivity in AS, which may be related to encephalopathic effects of seizures and epilepsy. [ABSTRACT FROM AUTHOR]

Psychopathology is prevalent in Williams (WS), fragile X (FXS) and Prader–Willi (PWS) syndromes. However, little is known about the potential correlates of psychopathology in these groups. A questionnaire study was completed by 111 caregivers of individuals with WS (n = 35); FXS (n = 50) and PWS (n = 26). Mean age was 26 years (range 12–57 years); 74 (67%) were male. Multiple regression analyses indicated that higher rates of health problems and sensory impairments predicted higher psychopathology in WS (p <.0001). In PWS, poorer adaptive ability predicted higher overall psychiatric disturbance (p =.001), generalised anxiety (p =.006) and hyperactivity (p =.003). There were no significant predictors in FXS. This study highlights dissociations in the potential risk markers of psychopathology between genetic syndromes. Implications for intervention are discussed. [ABSTRACT FROM AUTHOR]

Background The Strengths and Difficulties Questionnaire (SDQ) is widely used to measure emotional and behavioural problems in typically developing young people, although there is some evidence that it may also be suitable for children with intellectual disability (ID). The Developmental Behaviour Checklist – Parent version (DBC-P) is a measure of emotional and behavioural problems that was specifically designed for children and adolescents with an ID. The DBC-P cut-off has high agreement with clinical diagnosis. The aim of this study was to estimate the relationship between DBC-P and SDQ scores in a sample of children with ID. Method Parents of 83 young people with ID aged 4–17 years completed the parent versions of the SDQ and the DBC-P. We evaluated the concurrent validity of the SDQ and DBC-P total scores, and the agreement between the DBC-P cut-off and the SDQ cut-offs for ‘borderline’ and ‘abnormal’ behaviour. Results The SDQ total difficulties score correlated well with the DBC-P total behaviour problem score. Agreement between the SDQ borderline cut-off and the DBC-P cut-off for abnormality was high (83%), but was lower for the SDQ abnormal cut-off (75%). Positive agreement between the DBC-P and the SDQ borderline cut-off was also high, with the SDQ borderline cut-off identifying 86% of those who met the DBC-P criterion. Negative agreement was weaker, with the SDQ borderline cut-off identifying only 79% of the participants who did not meet the DBC-P cut-off. Conclusion The SDQ borderline cut-off has some validity as a measure of overall levels of behavioural and emotional problems in young people with ID, and may be useful in epidemiological studies that include participants with and without ID. However, where it is important to focus on behavioural profiles in children with ID, a specialised ID instrument with established psychometric properties, such as the DBC-P, may provide more reliable and valid information. [ABSTRACT FROM AUTHOR]

Background Recent studies have indicated an increased risk of autism, behavioural and emotional problems and attention-deficit/hyperactivity disorder in individuals with Down syndrome. Method In a large-scale survey-based study, we examined the rates of these problems and their relationship to age and gender, in a sample of 674 individuals (4-18 years) with Down syndrome. The relationship with IQ level was also explored in a subsample ( n = 175). The Strengths and Difficulties Questionnaire and the Social Communication Questionnaire were used to assess behavioural and emotional problems and autism traits. Results On the Strengths and Difficulties Questionnaire, peer problems were the most frequently reported difficulty (48% > cut-off), followed by hyperactivity/inattention (34% > cut-off). On the Social Communication Questionnaire, 37% scored at or above cut-off (≥15) for autism spectrum disorder; 17% were at or above the suggested cut-off (≥22) for autism. Little association between age and behavioural or emotional problems or with severity of autistic symptomatology was found. However, peer problems were more common in adolescents than in junior school children ( P < 0.001); Hyperactivity/inattention was less prevalent among adolescents ( P < 0.001). Conclusions High rates of autistic features, emotional and behavioural problems are documented. These problems are related to age, gender and degree of intellectual disability. [ABSTRACT FROM AUTHOR]

Background Formal IQ tests are an important part of the diagnostic and needs-based assessment process for children with neurodevelopmental disorders. However, resources for such assessments are not always available. It has been suggested that parental estimates of their child's developmental age could serve as a proxy IQ when formal measures are unavailable. Method Parental estimates of their child's developmental age were converted to a developmental quotient (DQ) in 197 children with Autism Spectrum Disorder (ASD) aged 4-9 years, and 108 children with ADHD and intellectual disability (ADHD + ID) aged 7-15 years. Formal IQ assessments were then conducted. Parents completed the Social Communication Questionnaire ((SCQ), a measure of autism symptomatology) and a demographic questionnaire. Results In the ASD sample, 58% of parent estimates were within 15 points (i.e. one standard deviation) of the child's measured IQ score. Lower measured IQ and lower SCQ total score predicted higher parental accuracy. In the ADHD + ID sample, 74% of parental estimates were within 15 points of measured IQ. In this group, higher child IQ predicted greater parental accuracy. Parents in the ADHD + ID group were more likely to overestimate children's ability level than parents in the ASD group. Conclusions In this study, the majority of parents of children with ADHD and ID were able to estimate their child's intellectual ability level with some accuracy. Parents of children with ASD were less accurate, but this may be because these parents were focussing more on children's level of adaptive functioning, which is known to be typically lower than cognitive ability in ASD. [ABSTRACT FROM AUTHOR]