Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders

Marta Arpone; Lesley Bretherton; David J Amor; Stephen J C Hearps; Carolyn Rogers; Michael J Field; Matthew F Hunter; Lorena Santa Maria; Angelica M Alliende; Jennie Slee; David E Godler; Emma K Baker

doi:10.1016/j.ridd.2022.104338

Agreement between parents' and clinical researchers' ratings of behavioral problems in children with fragile X syndrome and chromosome 15 imprinting disorders

Res Dev Disabil. 2022 Dec:131:104338. doi: 10.1016/j.ridd.2022.104338. Epub 2022 Sep 28.

Authors

Affiliations

¹ Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia; Brain and Mind, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
² Brain and Mind, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
³ Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia; Neurodisability and Rehabilitation, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.
⁴ Brain and Mind, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; Department of Critical Care, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia.
⁵ Genetics of Learning Disability Service, Hunter Genetics, Waratah, NSW, Australia.
⁶ Monash Genetics, Monash Health, Melbourne, VIC, Australia; Department of Paediatrics, Monash University, Melbourne, VIC, Australia.
⁷ Laboratory of Molecular Cytogenetics, Department of Genetics and Metabolic Diseases, Institute of Nutrition and Food Technology (INTA), University of Chile, Santiago, Chile.
⁸ Department of Health, Government of Western Australia, Genetic Services of Western Australia, Perth, Australia.
⁹ Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia.
¹⁰ Diagnosis and Development, Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia; Department of Paediatrics, Faculty of Medicine, Dentistry and Health Sciences, University of Melbourne, Parkville, VIC, Australia; School of Psychology and Public Health, La Trobe University, Bundoora, VIC, Australia. Electronic address: emma.baker@mcri.edu.au.

PMID: 36179574
DOI: 10.1016/j.ridd.2022.104338

Abstract

Background: Despite the increasing number of clinical trials involving children with neurodevelopmental disorders, appropriate and objective outcome measures for behavioral symptoms are still required.

Aim: This study assessed the agreement between parents' and clinical researchers' ratings of behavioral problem severity in children with fragile X syndrome (FXS) and chromosome 15 imprinting disorders.

Methods and procedures: The cohort comprised 123 children (64% males), aged 3-17 years, with FXS (n = 79), Prader-Willi (PWS; n = 19), Angelman (AS; n = 15), and Chromosome 15q duplication (n = 10) syndromes. Specific items from the Autism Diagnostic Observation Schedule-Second Edition and Aberrant Behavior Checklist-Community Edition mapping to corresponding behavioral domains were selected ad-hoc, to assess behavioral problems.

Outcomes and results: Inter-rater agreement for the cohort was slight for self-injury (Intraclass Correlation Coefficient (ICC) = 0.12), fair for tantrums/aggression (0.24) and mannerisms/stereotypies (0.25), and moderate for hyperactivity (0.48). When stratified by diagnosis, ICC ranged from poor (0; self-injury, AS and PWS) to substantial (0.48; hyperactivity, females with FXS).

Conclusions and implications: The high level of inter-rater disagreement across most domains suggests that parents' and researchers' assessments led to discrepant appraisal of behavioral problem severity. These findings have implications for treatment targets and outcome measure selection in clinical trials, supporting a multi-informant approach.

Keywords: ABC-C; ADOS-2; Angelman syndrome; Dup15q syndrome; Fragile X syndrome; Prader-Willi syndrome.

MeSH terms

Child
Chromosomes, Human, Pair 15 / genetics
Female
Fragile X Syndrome* / diagnosis
Fragile X Syndrome* / genetics
Humans
Male
Parents
Prader-Willi Syndrome* / diagnosis
Prader-Willi Syndrome* / genetics
Problem Behavior*