Occupational Therapy in Kleefstra Syndrome.

Area of Science:

• Genetics
• Neurodevelopmental Disorders
• Pediatric Therapy

Background:

• Kleefstra Syndrome (KS) is a rare genetic disorder linked to 9q34.3 microdeletion or EHTM1 gene mutations.
• KS is characterized by developmental delays, intellectual disability, hypotonia, and distinct facial features.

Observation:

• A four-year-old girl with KS diagnosed with developmental motor delay received occupational therapy from six months of age.
• Initial assessments revealed hypotonia and difficulties with motor milestones.
• Therapy utilized neurodevelopmental treatment, sensory integration, and ADL training.

Findings:

• Over three years of occupational therapy, the patient showed marked improvements in gross and fine motor skills and cognitive abilities.
• Milestones achieved include rolling at seven months, sitting at ten months, crawling at eighteen months, standing with support at twenty months, and walking at twenty-six months.
• Verbal communication skills remained a significant challenge, highlighting speech delay as a predominant KS feature.

Implications:

• Early and continuous occupational therapy can significantly enhance motor and cognitive functions in children with Kleefstra Syndrome.
• Accurate occupational and speech therapy assessments are crucial for patients diagnosed with KS.
• This case underscores the importance of multidisciplinary therapeutic approaches for managing complex neurodevelopmental disorders.