Background & Purpose: The SERAC1 gene mutation is rare disorder related to deficits in mitochondrial metabolism. Neuromotor development was not studied in literature for this type of patients based on physical therapy perspectives. However, in this case report, we described the Neuromotor development in a child with SERAC1 mutation at 18 months of age in order to plan for better rehabilitation care in pediatrics physical therapy profession.
Case Description: A girl child with SERAC1 mutation (18 months old) presented to the physical therapy clinic with delay in Neuromotor development. During physical therapy evaluation, hearing and vision are intact, Able to distinguish her parents voice and able to recognize them. Speech is impaired, Head control and sitting was perceived at six months of age and became very dependent at 18 months of age. Grasping and reaching is not completely developed.
Outcomes: The child was evaluated at the age of 12th and 18th month for normal development by using Alberta infant motor scale. The total score at 12 months was 17/58, and at 18th month was 13/58. We observed that the child development was less than 5th percentile of normal at both the measurements. We evaluated her neuromotor development by using Infant Neurological International Battery (INFANIB). The child was under abnormal category for neuromotor systems by having the total score 36/100. We used these two outcome measures as primary measure since they are the most common measures that used among pediatric physical therapists.
Discussion: This indicates that the abnormality in motor development was due to the nature of the disease, which is consistent with clinical manifestations presented in the literature. Both the scales have good reliability and validity. INFANIB scale has good predictive validity, by seeing definite abnormality at the 18th month we can assume that child may not have normal development in future also.
Conclusion: Future studies are required to explore the effectiveness of intensive rehabilitation therapy (including physical therapy, occupational therapy, and speech pathology services) in improving neuromotor development also to prevent any neuromotor regression for this type of disease. In addition, further investigations are required such as hearing test for better rehabilitation outcomes.
Key words: Infanib, Pediatrics, Rehabilitation, Neuromotor Development.
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