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Abstract

Background: Kleefstra syndrome (KS) is a rare genetic syndrome that develops due to haploinsufficiency of the euchromatic histone methyltransferase 1 gene and is mostly characterized by hypotonia, developmental delays and intellectual disorders. We aimed to report the potential effectiveness of a 12-week intensive physiotherapy (PT) program provided to a child with KS and to present the twoyear longitudinal follow-up results. Case Presentation: A 1-year-old male child diagnosed with KS was admitted. The age-specific individualized PT program was implemented for 12-week and the child was longitudinally followed-up. The Bayley Scales of Infant and Toddler Development-Third-Edition (Bayley-III), PedsQL™ Family Impact Module (FIM), PedsQL™-Parent-Report for Infants (Ages 13-24 months), PedsQL™- Parent-Report for Toddlers (Ages 2-4 years) and Sensory Profile-2 Caregiver Questionnaire were implemented at baseline, 3 months later, at 2 years of age, and at 3 years of age. The child demonstrated significant improvements in gross/fine motor and cognitive development and more moderate improvements in language development after the intensive PT program. However, both after intensive PT and at the follow-up at 2 and 3 years of age, all Bayley-III scores were <70 indicating severe neurodevelopmental delay. The intensive 12-week PT program improved the child's health-related quality of life (HRQoL) and positively influenced the family's emotional well-being, daily activities, and overall quality of life. However, these gains gradually diminished over time, with HRQoL scores stabilizing for the family but largely declining for the child at the two- and threeyear follow-ups. Conclusion: Intensive PT in the early period may promote the earlier acquisition of motor milestones in children with KS.

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