Mental health in children with a neurogenetic syndrome associated with intellectual disability

A/Professor Jenny Downs1, Dr Emma Glasson1, Mr Nicholas  Buckley1, Professor Wai Chen2, A/Prof Helen Leonard1, Ms Amy Epstein1, Dr Rachel Skoss1, A/Prof Peter Jacoby1, Dr A. Marie Blackmore3

1Telethon Kids Institute, Perth, Australia, 2Centre and Discipline of Child and Adolescent Psychiatry, Psychosomatics and Psychotherapy, The University of Western Australia, Perth, Australia, 3Therapy and Health Services, Ability Centre, Perth, Australia

Mental health symptomology is generally elevated in approximately 30-50% of children with intellectual disability. This systematic review aimed to estimate the prevalence of psychiatric conditions and symptoms in children and adolescents who have a genetically caused disorder associated with intellectual disability.

MEDLINE and PsycINFO databases were searched and 40 studies were included in the final pool across 10 syndromes, including five that were predominant: Down syndrome, 22q11.2 deletion syndrome, Fragile X syndrome, Williams syndrome and Prader-Willi syndrome.  The Child Behavior Checklist was the most commonly used assessment tool for mental health symptoms. Meta-analysis was conducted to derive pooled prevalence of psychiatric diagnoses and mental health symptoms.

Differential vulnerability for psychiatric disorders across the syndromes was observed. The pooled prevalence with total scores above the clinical threshold on the Child Behavior Checklist was lowest for Down syndrome (32% [95% CI, 19%-44%]) and highest for Prader-Willi syndrome (71%). There was a parallel trend for the social subscale scores.

Better estimation of the prevalence and nature of psychiatric problems in specific syndromes can inform anticipatory guidance and planning for the provision of appropriate resources and services. Reduced problems in the social domain were associated with better mental health, suggesting that creating socially supportive environments could improve mental health in children with neurogenetically caused intellectual disability.


Dr Jenny Downs leads research programs at the Telethon Kids Institute in Perth, Western Australia that work towards improving outcomes for children with disability and their families. Her current program includes research on rare disorders including Rett syndrome, the CDKL5 Deficiency Disorder, MECP2 Duplication syndrome and Prader-Willi syndrome, as well as Down syndrome, autism and cerebral palsy which occur more frequently. Jenny has used cohort, observational and qualitative study designs to progress these research fields and her expertise in these rare disorders is being recognised internationally. She works with consumers to develop meaningful research programs and aims for the translation of research findings into clinical practice. She has a strong vision of what success looks like for both children and their families which, over the short and long term, includes living with a strong quality of life.

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