Truncating mutations were generally found to cause a more severe phenotype but this correlation was not absolute. Three dimensional facial imaging demonstrated the potential for classifying facial features. Behavioural problems were highly correlated with the level of adaptive functioning, and also included autism. No correlation of behaviour with the type of mutation was found.

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BackgroundIntroduction of proposed criteria for DSM-5 Autism Spectrum Disorder (ASD) has raised concerns that some individuals currently meeting diagnostic criteria for Pervasive Developmental Disorder (PDD; DSM-IV-TR/ICD-10) will not qualify for a diagnosis under the proposed changes. To date, reports of sensitivity and specificity of the new criteria have been inconsistent across studies. No study has yet considered how changes at the ‘sub domain’ level might affect overall sensitivity and specificity, and few have included individuals of different ages and ability levels.MethodsA set of DSM-5 ASD algorithms were developed using items from the Diagnostic Interview for Social and Communication Disorders (DISCO). The number of items required for each DSM-5 subdomain was defined either according to criteria specified by DSM-5 (Initial Algorithm), a statistical approach (Youden J Algorithm), or to minimise the number of false positives while maximising sensitivity (Modified Algorithm). The algorithms were designed, tested and compared in two independent samples (Sample 1, N = 82; Sample 2, N = 115), while sensitivity was assessed across age and ability levels in an additional dataset of individuals with an ICD-10 PDD diagnosis (Sample 3, N = 190).ResultsSensitivity was highest in the Initial Algorithm, which had the poorest specificity. Although Youden J had excellent specificity, sensitivity was significantly lower than in the Modified Algorithm, which had both good sensitivity and specificity. Relaxing the domain A rules improved sensitivity of the Youden J Algorithm, but it remained less sensitive than the Modified Algorithm. Moreover, this was the only algorithm with variable sensitivity across age. All versions of the algorithm performed well across ability level.ConclusionsThis study demonstrates that good levels of both sensitivity and specificity can be achieved for a diagnostic algorithm adhering to the DSM-5 criteria that is suitable across age and ability level.

Language profiles of children with autistic disorder and intellectual disability (n = 36) were significantly different from the comparison groups of children with intellectual disability (n = 26) and typically developing children (n = 34). The group low-functioning children with autistic disorder obtained a higher mean score on expressive than on receptive language, whereas both comparison groups showed the reverse pattern. Nonverbal mental age, joint attention, and symbolic understanding of pictures were analyzed in relation to concurrent receptive and expressive language abilities. In the group with autistic disorder and intellectual disability, symbol understanding and joint attention were most strongly related to language abilities. Nonverbal mental age was the most important predictor of language abilities in the comparison groups.

After reading this paper, readers should be able to: (1) describe early development of communicative functions, (2) explain differences in communication profiles with respect to form and function between verbal and nonverbal low-functioning children with autism and typically developing children matched on nonverbal mental age and (3) discuss clinical implications of the findings for communication interventions in verbal and nonverbal low-functioning children with autism.

Categorical principal component analysis proved particularly valuable for the description of this small group of participants given the large number of variables with different measurement levels. The success of the technique in the present study suggests that a similar approach to the characterisation of other rare genetic syndromes could prove extremely valuable. Given the high variability and interrelatedness of characteristics in CdLS persons, parents should be informed about this differentiated perspective.

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.

Taken together, the results indicate that the ComFor is a promising instrument to explore underlying competence for augmentative communication. Areas for future research are outlined and the clinical relevance is discussed.