Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. It is caused by variants in the transcription factor TCF4. Heterogeneity in the clinical and molecular diagnostic criteria and care practices has prompted a group of international experts to establish guidelines for diagnostics and care.

Behaviour in Cornelia de Lange syndrome: a systematic review.

Aim: Careful study and accurate description of behaviour are important to understand developmental challenges for individuals with Cornelia de Lange syndrome (CdLS). Here we present a systematic review of current understanding of behaviour in CdLS.

Method: A systematic search was performed for articles published between January 1946 and December 2015 evaluating autism, self-injury, and/or cognition in CdLS.

Executive Functions in Older Adults With Autism Spectrum Disorder: Objective Performance and Subjective Complaints.

Although deficits in Executive Functioning (EF) are reported frequently in young individuals with Autism Spectrum Disorders (ASD), they remain relatively unexplored later in life (>50 years). We studied objective performance on EF measures (Tower of London, Zoo map, phonetic/semantic fluency) as well as subjective complaints (self- and proxy reported BRIEF) in 36 ASD and 36 typically developed individuals (n = 72). High functioning older adults with ASD reported EF-impairments in metacognition, but did not deviate in EF task performance, except for a longer execution time of the Tower of London.

Paternal age and risk of autism in an ethnically diverse, non-industrialized setting: Aruba.

Objective: The aim of this study was to examine paternal age in relation to risk of autism spectrum disorders (ASDs) in a setting other than the industrialized west.

Design: A case-control study of Aruban-born children (1990-2003). Cases (N = 95) were identified at the Child and Adolescent Psychiatry Clinic, the only such clinic in Aruba; gender and age matched controls (N = 347) were gathered from public health records.

Development, cognition, and behaviour in Pitt-Hopkins syndrome.

Aim: The aim of the study was to collect detailed data on behavioural, adaptive, and psychological functioning in 10 individuals with Pitt-Hopkins syndrome (PTHS), with specific attention to manifestations of autism spectrum disorder (ASD).

Method: The participants (four females, six males), residing in the Netherlands and Belgium, were ascertained through the Dutch national PTHS support group. Median age of participants was 10 years, the age range was between 32 and 289 months.

Prevalence of treated autism spectrum disorders in Aruba.

To study autism outside of a narrow range of settings previously studied, and in a particularly distinctive setting in the Caribbean. The aim of the Aruba Autism Project was to determine the prevalence of autism spectrum disorders (ASDs) in birth years 1990-1999 in Aruba. A record review study was conducted; cases were ascertained from children treated at the Child & Adolescent Psychiatry Clinic of Aruba, the first and only child psychiatry service on the island.