Xia-Gibbs Syndrome: A Rare Case Report of a Male Child and Insight into Physiotherapy Management

Xia-Gibbs syndrome (XGS) is a recently discovered genetic disorder. It is characterized by global developmental delay, intellectual impairment, hypotonia, and sleep abnormalities. While the current literature emphasizes on the genotype and phenotype of this rare condition, it does not provide any description of the physiotherapy management of patients with XGS. We report a case of a 27-month-old Indian male diagnosed with XGS, who presented with difficulty in sitting without support. He had dysmorphic facies, hypotonia, hyperextensible joints, mild kyphoscoliosis, and global developmental delay. His parents and an elder female sibling were clinically asymptomatic. The physiotherapy intervention was based on the principles of neurodevelopmental treatment (NDT) and sensory integration (SI). The management included facilitation of transitions, weight-bearing exercises, wheelbarrow walking, joint compressions, rib cage mobilization, multidirectional reaching, and pushing-pulling activities along with the use of equipment like Swiss ball, balance board, stability disc, trampoline, swing system, walker (rollator), and walking harness. Also, stabilizing pressure input orthosis (SPIO) for the trunk and ankle-foot orthosis (AFO) followed by supramalleolar orthosis (SMO) were used for support. Thereafter, the child was able to stand and walk without support at the age of 36 months, and walk on uneven terrain at the age of 42 months. In addition, he could negotiate stairs using handrails with mild assistance. His gross motor function measure-88 (GMFM-88) total score improved from 21% at the presentation to 66.6% following the treatment. It was observed that the NDT and SI approaches along with the use of appropriate orthoses accelerated the achievement of motor milestones in this case. To the best of our knowledge, this is the first case report of a child with XGS that emphasizes on the course of physiotherapy management for the associated motor delay.