ABSTRACT
BACKGROUND: Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its infancy. In this study, reported behavioural and psychological characteristics of individuals with PTHS were investigated in comparison with the reported behaviour of age-matched individuals with Angelman syndrome (AS) and Cornelia de Lange syndrome (CdLS). METHODS: Questionnaire data were collected from parents/caregivers of individuals with PTHS (n = 24), assessing behaviours associated with autism spectrum disorder (ASD), sociability, mood, repetitive behaviour, sensory processing, challenging behaviours and overactivity and impulsivity. For most measures, data were compared to data for people with AS (n = 24) and CdLS (n = 24) individually matched by adaptive ability, age and sex. RESULTS: Individuals with PTHS evidenced significantly higher levels of difficulties with social communication and reciprocal social interaction than individuals with AS, with 21 of 22 participants with PTHS meeting criteria indicative of ASD on a screening instrument. Individuals with PTHS were reported to be less sociable with familiar and unfamiliar people than individuals with AS, but more sociable with unfamiliar people than individuals with CdLS. Data also suggested areas of atypicality in sensory experiences. Challenging behaviours were reported frequently in PTHS, with self-injury (70.8%) occurring at significantly higher rates than in AS (41.7%) and aggression (54.2%) occurring at significantly higher rates than in CdLS (25%). Individuals with PTHS also evidenced lower reported mood than individuals with AS. CONCLUSIONS: Behaviours which may be characteristic of PTHS include those associated with ASD, including deficits in social communication and reciprocal social interaction. High rates of aggression and self-injurious behaviour compared to other genetic syndrome groups are of potential clinical significance and warrant further investigation. An atypical sensory profile may also be evident in PTHS. The specific aetiology of and relationships between different behavioural and psychological atypicalities in PTHS, and effective clinical management of these, present potential topics for future research.
Subject(s)
Angelman Syndrome/physiopathology , Behavioral Symptoms/physiopathology , De Lange Syndrome/physiopathology , Hyperventilation/physiopathology , Intellectual Disability/physiopathology , Adolescent , Adult , Angelman Syndrome/complications , Angelman Syndrome/psychology , Behavioral Symptoms/etiology , Behavioral Symptoms/psychology , Child , Child, Preschool , De Lange Syndrome/complications , De Lange Syndrome/psychology , Facies , Female , Humans , Hyperventilation/complications , Hyperventilation/psychology , Infant , Intellectual Disability/complications , Intellectual Disability/psychology , Male , Young AdultABSTRACT
PURPOSE: Neurorehabilitation aims to increase independence and participation in ordinary life. It is argued that the fundamental indices of this are independent living and engagement in occupational or productive activity. The Brain Injury Rehabilitation Trust Independent Living Scale was designed to capture change in levels of participation and independence following neurorehabilitation. With greater use of outcome measures in health care, it becomes necessary to develop tools which are simple to use and that capture the holistic impact of rehabilitation. This study examines the inter-rater reliability and validity of the Brain Injury Rehabilitation Trust Independent Living Scale, which comprises two single item, multiple-choice sub-scales. METHOD: Inter-rater reliability was assessed by comparing the ratings on the Brain Injury Rehabilitation Trust Independent Living Scale, by five pairs of graduate psychologists, of 37 individuals who had undergone neurorehabilitation. Retrospective data collected by other members of the clinical team for the Mayo-Portland Adaptability Inventory-4, Supervision Rating Scale and Care And Needs Scale were correlated with the Brain Injury Rehabilitation Trust Independent Living Scale to establish concurrent validity. RESULTS: Weighted kappa coefficients revealed moderate (occupation) to strong (accommodation) inter-rater reliability for the two sub-scales. All correlations between the Brain Injury Rehabilitation Trust Independent Living Scale and the Mayo-Portland Adaptability Inventory-4, Supervision Rating Scale and the Care And Needs Scale were high, demonstrating good concurrent validity. CONCLUSIONS: This study highlights some of the psychometric properties of the Brain Injury Rehabilitation Trust Independent Living Scale and demonstrates its utility in assessing independent living ability and level of social participation after neurorehabilitation. Implications for rehabilitation The BIRT Independent Living Scale is a validated method for ranking accommodation and occupation status as an indicator of independent living ability and occupational activity. The two freely available single-item scales emerging from this study provide a brief method for measuring independent living ability and participation following rehabilitation in research and clinical practice. The BIRT Independent Living Scale's simplicity means it does not require specific training to administer, facilitating its use by a wide range of multidisciplinary staff members and researchers.
