The behavioural phenotype of children with charge syndrome

Thomas, Andrea (2025). The behavioural phenotype of children with charge syndrome. University of Birmingham. Ph.D.

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Abstract

Background: CHARGE syndrome is a highly variable, rare multisystemic condition, with an estimated prevalence of 1 in 8500 live births. Given the multitude of medical difficulties experienced by children with CHARGE syndrome, research to date has focused on understanding the physical phenotype. However, while there is limited research available, the studies that have been undertaken suggest that there may also be a behavioural phenotype associated with the syndrome, and that delineation of this phenotype could help to improve the availability and specificity of clinical support provided to people with CHARGE syndrome.

Methods: A large-scale systematic review and meta-analysis yielding 42 articles including 1556 participants was employed to elucidate the prevalence of phenotypic characteristics and variability in CHARGE syndrome. A syndrome profile comparison survey was conducted to compare sleep and behaviour characteristics between CHARGE syndrome and five clinical neurodevelopmental groups matched on age and ability level. The sample included 26 participants (13 female) with CHARGE syndrome (Mage = 8.12 years; SD 3.47). A multi method sleep study (N=7, Mage=8.14; SD = 3.39) using actigraphy and standardised questionaries was conducted to identify the sleep profile of children with CHARGE syndrome and to examine how this compared to an age-matched typically developing group. Finally, an interview study was conducted to assess the severity and function of behaviours that challenge in children with CHARGE syndrome with a particular focus on aggressive
behaviour (N=14; Mage = 9.91; SD = 3.46).

Results: The meta-analysis revealed a high prevalence of aggressive (48%) and self-injurious behaviours (44%) and a high prevalence of sleep problems in CHARGE syndrome (45%). iii However, syndrome profile comparisons revealed no significant difference between CHARGE syndrome and the five age and ability matched clinical groups on behaviours that challenge. The thesis found weak evidence for the null and alternative hypotheses in the Bayesian t-tests comparing children with CHARGE syndrome to typically developing children on sleep and behaviours that challenge. The interview study revealed that aggression commonly required immediate intervention, and that reinstatement of routine / repetitive
behaviour was a common function for behaviours that challenge.

Conclusion: This thesis has provided a robust delineation of several, clinically relevant aspects of the behavioural phenotype of children with CHARGE syndrome. The behavioural phenotype of CHARGE syndrome includes behaviours that challenge and sleep difficulties. Specifically, it includes aggressive behaviour. Regular assessment is important to ascertain when behavioural intervention is required, and functional assessment can be used as part of this assessment to help tailor interventions.

Type of Work:

Thesis (Doctorates > Ph.D.)

Award Type:

Doctorates > Ph.D.

Supervisor(s):