Developmental and behavioral problems in preschool-aged primary ciliary dyskinesia patients

Area of Science:

• Pediatric Health
• Developmental Pediatrics
• Rare Diseases

Background:

• Primary ciliary dyskinesia (PCD) is a rare genetic disorder affecting cilia function, leading to a range of health issues.
• While intelligence is comparable to healthy peers, school-aged PCD patients exhibit higher hyperactivity and inattention.
• The developmental, behavioral, and social-emotional profiles of preschool-aged children with PCD require further investigation.

Purpose of the Study:

• To explore developmental, behavioral, and social-emotional aspects in preschool-aged children diagnosed with PCD.
• To compare these aspects between children with PCD, cystic fibrosis (CF), and healthy controls.

Main Methods:

• Utilized the Ages and Stages Questionnaire for developmental screening.
• Employed the Child Behavior Checklist (CBCL) for behavioral and social-emotional assessment.
• Enrolled 14 PCD patients, 17 CF patients, and 15 healthy children.

Main Results:

• Children with PCD demonstrated a statistically higher incidence of positive developmental delay screenings compared to CF patients and healthy controls.
• Specific delays were more prevalent in communication and problem-solving domains for PCD patients.
• Fine motor skill delays were observed more frequently in both PCD and CF groups than in healthy children.
• No significant differences were found in gross motor or personal-social development across groups.
• No social-emotional problems were identified in any group.
• CF patients exhibited higher internalizing problem scores on the CBCL.
• PCD patients with delays in multiple domains showed elevated externalizing and total problem scores on the CBCL.

Conclusions:

• Preschool-aged children with PCD are more likely to screen positive for developmental delays than their peers with CF or healthy children.
• Developmental delays in PCD are associated with increased externalizing and total behavioral problems, particularly when delays span multiple domains.