Psychiatric assessment in Phelan-McDermid Syndrome (22q13 deletion syndrome)

ABSTRACT

Background: Phelan-McDermid Syndrome (PHMDS)/22q13.3 deletion syndrome is a rare genetic disorder linked to Autism Spectrum Disorder (ASD) and Intellectual Disability (ID). There are reports of PHMDS co-occurring with psychiatric disorders, but little is known about the assessment of such disorders in PHMDS.

Method: A case study focusing on a single assessment was performed to explore whether approaches to psychiatric assessment in ASD/ID may be applicable in PHMDS.

Results: Findings indicate that strategies employed in psychiatric assessment in individuals with ASD and ID may be utilised in individuals with PHMDS with little or no adjustment.

Conclusions: Developing more systematic approaches to psychiatric assessment in individuals with PHMDS is important, both for further research and in the clinic.

KEYWORDS:

• Phelan-Mcdermid Syndrome
• 22q13.3 deletion syndrome
• psychiatric disorder
• bipolar disorder
• Autism
• assessment

Acknowledgements

All authors have contributed to, seen, and approved the manuscript and agree to the order of authors as listed.

Disclosure statement

No potential conflict of interest was reported by the authors.

Additional information

Funding

The research in the current study has been funded by the authors’ employers through their work as clinicians.