Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study.

Area of Science:

• Neuroscience
• Genetics
• Psychiatry

Background:

• Kleefstra Syndrome (KLEFS1) is a rare monogenic neurodevelopmental disorder.
• It causes developmental delays, physical issues, and neuropsychiatric symptoms.
• Families face significant challenges and require extensive support.

Purpose of the Study:

• To investigate the impacts of raising a child with KLEFS1 on families.
• To identify the support needs of families affected by KLEFS1.
• To inform improved care strategies and support systems.

Main Methods:

• Semi-structured interviews were conducted with 15 parents of children with KLEFS1 (aged 8-25).
• Interviews were audio-recorded, transcribed, coded, and thematically analyzed.
• Study conducted in the Netherlands and Belgium.

Main Results:

• Parents reported profound emotional impacts, particularly concerning developmental, behavioral, and psychiatric symptoms.
• Challenges affected parents' employment, activities, and emotional well-being.
• Concerns about the child's future dependency and risk of regression were prominent.

Conclusions:

• Timely diagnosis is valued, but ongoing support is crucial.
• Improved accessibility of social support, including respite care and specialized schooling, is essential.
• Incorporating parental experiences into treatment development and outcome measures is recommended.