Few comparative studies have evaluated the heterogeneity of sociability across a range of neurodevelopmental disorders. The Sociability Questionnaire for People with Intellectual Disability (SQID) was completed by caregivers of individuals with Cornelia de Lange (n = 98), Angelman (n = 66), Fragile X (n = 142), Down (n = 117) and Rubinstein Taybi (n = 88) syndromes and autism spectrum disorder (ASD; n = 107). Between groups and age-band (<12yrs; 12-18yrs; >18yrs) comparisons of SQID scores were conducted. Rates of behaviors indicative of selective mutism were also examined. Fragile X syndrome achieved the lowest SQID scores. Cornelia de Lange, ASD, and Fragile X groups scored significantly lower than Angelman, Down and Rubinstein Taybi groups. Selective mutism characteristics were highest in Cornelia de Lange (40%) followed by Fragile X (17.8%) and ASD (18.2%). Age-band differences were identified in Cornelia de Lange and Down syndrome.

Mental health problems affect people with intellectual disabilities (ID) at rates similar to or in excess of the non-ID population. People with severe ID are likely to have persistent mental health problems. In this systematic review (PROSPERO 2015:CRD42015024469), we identify and evaluate the methodological quality of available measures of mental health problems or well-being in individuals with severe or profound ID. Electronic searches of ten databases identified relevant publications. Two reviewers independently reviewed titles and abstracts of retrieved records (n=41,232) and full-text articles (n=573). Data were extracted and the quality of included papers was appraised. Thirty-two papers reporting on 12 measures were included. Nine measures addressed a broad spectrum of mental health problems, and were largely observational. One physiological measure of well-being was included. The Aberrant Behavior Checklist, Diagnostic Assessment for the Severely Handicapped Scale-II and Mood, Interest and Pleasure Questionnaire are reliable measures in this population. However, the psychometric properties of six other measures were only considered within a single study - indicating a lack of research replication. Few mental health measures are available for people with severe or profound ID, particularly lacking are tools measuring well-being. Assessment methods that do not rely on proxy reports should be explored further.

R e p e t i t i v e b e h a v i o u r i n R u b i n s t e i n -T a y b i s y n d r om e : P a r a l l e l s w i t h a u t i sm s p e c t r um p h e n om e n o l o g y J a n e W a i t e , J o a n n a M o s s , S a r a h B e c k , C a r o l i n e R i c h a r d s , L i s a N e l s o n , K a t e A r r o n , C h e r y l B u r b i d g e , K a t y B e r g a n d C h r i s O l i v e r C e r e b r a C e n t r e f o r N e u r o d e v e l o pm e n t a l D i s o r d e r s , S c h o o l o f P s y c h o l o g y , U n i v e r s i t y o f B i rm i n g h am P l e a s e u s e t h i s r e f e r e n c e w h e n c i t i n g t h i s w o r k :W a i t e , J . , M o s s , J . , B e c k , S . R . , R i c h a r d s , C . , N e l s o n , L . , A r r o n , K . , B u r b i d g e , C . , B e r g , K . , & O l i v e r , C . ( 2 0 1 5 ) . R e p e t i t i v e b e h a v i o u r i n R u b i n s t e i n -T a y b i s y n d r om e : P a r a l l e l s w i t h a u t i sm s p e c t r um p h e n om e n o l o g y . J o u r n a l o f A u t i sm a n d D e v e l o pm e n t D i s o r d e r s , 4 5 , 1 2 3 8 -1 2 5 3 .

Anxiety disorders are heightened in specific genetic syndromes in comparison to intellectual disability of heterogeneous aetiology. In this study, we described and contrasted anxiety symptomatology in fragile X (FXS), Cornelia de Lange (CdLS) and Rubinstein–Taybi syndromes (RTS), and compared the symptomatology to normative data for typically-developing children and children diagnosed with an anxiety disorder. Scores did not differ between children diagnosed with an anxiety disorder and (a) participants with FXS on social phobia, panic/agoraphobia, physical injury fears, and obsessive–compulsive subscales (b) participants with CdLS on separation anxiety, generalized anxiety, panic/agoraphobia, physical injury fears and obsessive–compulsive subscales, and (c) participants with RTS on panic/agoraphobia and obsessive–compulsive subscales. The results highlight divergent profiles of anxiety symptomatology between these groups.

Behavioural phenotype research is of benefit to a large number of children with genetic syndromes and associated developmental delay. This article presents an overview of this research area and demonstrates how understanding pathways between gene disorders and behaviour can inform our understanding of the difficulties individuals with genetic syndromes and developmental delay experience, including self-injurious behaviour, social exploitation, social anxiety, social skills deficits, sensory differences, temper outbursts and repetitive behaviours. In addition, physical health difficulties and their interaction with behaviour are considered. The article demonstrates the complexity involved in assessing a child with a rare genetic syndrome.