Change over time in people with rare Neurogenetic Syndromes

Watkins, Alice Coghlan (2024). Change over time in people with rare Neurogenetic Syndromes. University of Birmingham. Clin.Psy.D.

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Abstract

This thesis comprises four chapters. The first chapter contains a meta-analytic review of 154 studies reporting on the prevalence of epilepsy in genetic syndromes associated with intellectual disability. The meta-analysis used a random-effects model to estimate pooled prevalence of epilepsy across 12 genetic syndromes identified in the systematic search. Pooled prevalence estimates ranged from 4% in people with Rubinstein-Taybi syndrome to 96% in people with Wolf-Hirschhorn syndrome. The prevalence estimates varied across syndrome groups, with all estimates exceeding rates reported for the general population. The methodology varied across studies and so prevalence estimates of epilepsy may be impacted by the measurement of epilepsy and the identification of samples.

The second chapter contains an empirical research study evaluating the persistence of behaviours that challenge, specifically self-injury, aggression and destruction of property, in people with genetic syndromes associated with intellectual disability over a period of 16 years. Parents/carers of 81 people with genetic syndromes completed online questionnaires. Overall, the results suggested behaviours that challenge continue to persist over 16 years. The study also evaluated demographic and behavioural characteristics associated with the developmental trajectory of these behaviours. The results revealed that impulsivity and mood predict persistent aggressive behaviours over 16 years, with impulsivity also predicting persistent destructive behaviours. The findings highlight individual characteristics of impulsivity and mood that may support the identification of children at an increased likelihood of developing persistent behaviours that challenge.

The third and fourth chapters comprise of press releases for the meta-analytic review and empirical study, respectively.

Type of Work:

Thesis (Doctorates > Clin.Psy.D.)

Award Type:

Doctorates > Clin.Psy.D.

Supervisor(s):