Related Experiment Video
Updated: Jul 12, 2026
Involving Individuals with Developmental Language Disorder and Their Parents/Carers in Research Priority Setting
Published on: June 6, 2020
Children with 4q-syndrome: the parents' perspective
1Unique, Rare Chromosome Disorder Support Group, Caterham, Surrey, UK. strehle@doctors.org.uk
Insights
Parents of children with 4q-syndrome experience distress and information gaps post-diagnosis. Despite challenges, most parents highly value their experience, showing good understanding of the genetic cause.
Area of Science:
- Genetics
- Pediatrics
- Psychology
Background:
- 4q-syndrome is a rare genetic disorder affecting children.
- Parental experiences and support systems are crucial for managing chronic childhood conditions.
Purpose of the Study:
- To investigate the experiences of parents with children diagnosed with 4q-syndrome.
- To assess parental distress, information needs, and sources of support.
Main Methods:
- A questionnaire survey was administered to parents of 32 children with 4q-syndrome.
- The survey collected data on medical conditions, parent-professional interactions, and support systems.
Main Results:
- Most parents experienced significant distress at diagnosis, with 66% reporting a lack of medical information.
- Parental understanding of the genetic etiology was generally good.
- The internet and religion were identified as important sources of support, alongside multidisciplinary healthcare teams.
Conclusions:
- Effective communication and information provision are vital for supporting families affected by 4q-syndrome.
- Despite challenges, parents overwhelmingly reported a positive valuation of their experience raising a child with 4q-syndrome.
Abstract:
A questionnaire survey was conducted among the parents of 32 not previously described children with 4q-syndrome, and 4 affected adult relatives. The questions related to the medical condition of the individual child and the interactions between parents and health professionals. The response rate of the survey was 58 %, and the mean age of the patients was 11.2 years. Thirty eight percent of children were diagnosed within the 1st month of life. Most parents felt severely distressed at the time of diagnosis and 66 % complained about a lack of medical information made available to them. However, parental understanding of the genetic aetiology responsible for the 4q-syndrome was overall good. Apart from a multidisciplinary team of healthcare workers, the internet and religion were named as sources of support. In all, 86 % of parents valued the experience of having a child with 4q-syndrome highly despite the difficulties involved.
Related Concept Videos
00:55Parental Care
01:27Parenting Styles
Authoritarian Parenting
This style is strict and controlling, with little room for open dialogue. Authoritarian parents demand obedience and often enforce rules with minimal warmth. Children raised this way may lack social skills and initiative, usually comparing themselves to others unfavorably.
Authoritative Parenting
This...
01:28Relationship with Parents: Attachment
01:19Autism Spectrum Disorder
These core symptoms manifest differently among individuals, ranging from mild to severe. The disorder's complexity extends beyond its clinical presentation, encompassing a diverse range of biological, cognitive, and sociocultural influences.
01:35Pedigree Analysis
01:23Pharmacokinetics in Pediatric Patients: Overview and Drug Absorption