Dear Editor, Aicardi syndrome is a rare X-linked dominant neurodevelopmental disorder that almost exclusively affects females compared with males. Classically, it is characterized by the triad of agenesis of the corpus callosum, chorioretinal lacunae, and infantile spasms.1De novo genetic mutations disrupt early cerebral development, causing cortical malformations, ventriculomegaly, heterotopias, and severe neurological impairment. Clinically, children present with early-onset seizures, hypotonia progressing to spasticity, visual impairment,2 microcephaly, profound developmental delay, and skeletal anomalies such as scoliosis. Prognosis remains guarded, with most requiring lifelong care due to refractory seizures and progressive musculoskeletal complications. Evidence supporting physiotherapy intervention in Aicardi syndrome is scarce. Literature is limited to isolated case reports describing modest functional gains through positioning, neurodevelopmental facilitation, and caregiver-guided home programs. The novelty of this report lies in documenting outcomes from a structured, 24-week neurodevelopmental therapy (NDT)-based physiotherapy program using objective assessment with the gross motor function measure-88 (GMFM-88) in a child with severe developmental delay.3 A 3-year-old female diagnosed with Aicardi syndrome was referred to the physiotherapy outpatient department of a tertiary care hospital for developmental management. Developmental concerns were noted at 4 months due to absent visual contact and poor head control, followed by flexor spasms at 6 months. Antiepileptic medication continued throughout, with stable seizure control. Assessment revealed severe hypotonia, absent head control, poor trunk stability, minimal purposeful movement, thoracolumbar kyphosis, and persistent head lag. Anthropometric measures showed a weight of 11 kg, height of 70 cm, and head circumference of 44.5 cm—all below age norms, consistent with microcephaly and growth delay. Neurological exam demonstrated brisk deep tendon reflexes and bilateral extensor plantar responses. The GMFM-88 baseline score was 2.4%. This tool was selected for its proven sensitivity to detect small, clinically meaningful motor changes even in children with profound delay and visual impairment. The NDT-based intervention emphasized postural control, facilitation of transitional movements, and sensory integration using visual, proprioceptive, and vestibular inputs. Activities included prone positioning, supported sitting, rocking, and functional play. Caregivers received training in a structured home program. Therapy occurred four times weekly for 45 min over 24 weeks, with goals progressed systematically: weeks 1–4 focused on head control; weeks 5–8 on trunk control and rolling; later phases targeted sensory engagement and transitional postures. After intervention, GMFM-88 dimensions A and B improved from 2.4% to 23%. The child achieved sustained head control, spontaneous limb activity, independent rolling, and supported sitting for 20–30 s. Additional gains included better postural stability, antigravity responses, tactile tolerance, and vestibular adaptation. Caregivers subjectively reported improved satisfaction, rising from 3 to 8 on a 10-point Visual Analog Scale. This case demonstrates that early, structured NDT can yield measurable functional gains in Aicardi syndrome. Family-centered4 approaches enhanced adherence and outcomes. Limitations include the single-case design without controls; larger cohort studies are warranted. Declaration of patient consent Institutional ethical approval was obtained. Written informed caregiver consents covered assessment, intervention, and publication. Financial support and sponsorship Nil. Conflicts of interest There are no conflicts of interest.
Shaikh et al. (Fri,) studied this question.