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Objectives 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. [ABSTRACT FROM AUTHOR]

Spine deformities could be considered a possible manifestation of the childhood hypotonia, typical feature of Kleefstra Syndrome (KS). There is a paucity of literature describing posterior spinal fusion in the Kleefstra syndrome patient. For patients who develop severe scoliotic curve, bracing is often ineffective and surgery is recommended. We report the first corrective surgery for scoliosis in one patient with KS. We describe a case of 13-year-old female with severe developmental scoliosis in KS. Preoperative examination showed a thoracolumbar scoliosis with left convex thoracic curve (T3-T9, 97°) and right convex thoracolumbar curve (T9-L3, 88°). Posterior correction, pedicle screw fixation and bone graft fusion T3-L5 was performed. Postoperatively, the thoracic curve was corrected to 33° while the thoracolumbar one to 26° and better standing posture was obtained. Six month follow-up images showed no loosening of the hardware. The patient is still in our follow-up program. Scoliosis seems to be a rare evenience of the severe hypotonia of patients with KS. We report the first case of scoliosis in KS treated successfully with surgery. Corrective surgery for spinal deformity, such as scoliosis, could help in posture and improve the quality of life especially in complicated patients such as syndromic ones. [ABSTRACT FROM AUTHOR]