Occupational Therapy in Kleefstra Syndrome

Kleefstra Syndrome (KS) is a rare genetic neurodevelopmental disorder caused by a microdeletion in chromosomal region 9q34.3 or a mutation in the euchromatin histone methyltransferase 1 (EHTM1) gene. Patients with KS show a range of clinical symptoms, including delay in motor and speech development, intellectual disability, autistic-like features, childhood hypotonia, and distinctive facial dysmorphic features. The patient is a four-year-old girl who was initially diagnosed with developmental motor delay by a pediatric neurologist and referred to an occupational therapy clinic at the age of six months. The initial assessment showed hypotonia and difficulties with rolling. Occupational therapy intervention was based on principles of neurodevelopmental treatment and sensory integration (SI) with cognitive integration and activities of daily living (ADL) training. With continuous occupational therapy services over more than three years, she overcame many disabilities and improved in occupational performance skills such as gross and fine motor skills as well as cognitive abilities, although her verbal communication skills were not effective. The patient's progress was as follows: she began rolling over at seven months, achieved independent sitting at ten months, crawled at eighteen months, stood with support at twenty months, and took her first steps at twenty-six months. The predominant problem was speech delay, which was noticeable in this syndrome. When a patient is being referred because of KS, occupational and speech therapy assessments should be accurately implemented.