Physiotherapy in early detection and intervention of rare pediatric diseases - case series from Saudi Arabia

Background:

Rare pediatric neurological disorders often manifest with subtle motor and developmental signs that may be overlooked in early stages. The prevalence of rare diseases (RDs) in Saudi Arabia is considered high compared to other parts of the world due to the high frequency of pathogenic alleles in the population (Eiss et al., 2021; Aleissa et al., 2022). Despite efforts by the Saudi government to reduce the burden of specific diseases (Saudi Ministry of Health, 2020), the prevalence of RDs remains elevated, largely attributed to the high rate of consanguineous marriages (CM) in the region (Bittles and Black, 2010). The rate of positive consanguinity has been reported at 56%, with autosomal recessive inheritance accounting for 54%. Within this context, physiotherapists, through developmental screening and functional assessments, are uniquely positioned to contribute to both early identification and early intervention, thereby improving outcomes and guiding timely referral.

Methods:

We present two pediatric cases from the Department of Physical Therapy at Jazan University Hospital, Saudi Arabia, in which physiotherapy assessments led to early recognition of rare diseases. Detailed physiotherapy evaluations focused on motor milestones, gait, balance, and neuromotor patterns. Interventions were individualized, family-centered, and integrated into multidisciplinary care.

Results:

• Case 1: A 2-year and 6-month-old child with recurrent seizures and delayed motor milestones was referred for physiotherapy. Observation of atypical neuromotor patterns prompted neurological referral, leading to the diagnosis of a neurometabolic disorder - pyridoxine-dependent epilepsy. Early physiotherapy interventions emphasized motor facilitation, caregiver education, and play-based functional training, complementing medical management.
• Case 2: A 3-year and 2-month-old child presented with progressive gait instability and frequent falls. Physiotherapy assessment revealed features of ataxia, oculomotor difficulties, and telangiectasia, guiding genetic testing that confirmed Leukodystrophic disorder with X-linked pyruvate dehydrogenase E1-alpha deficiency. Early physiotherapy interventions focused on balance training, adaptive strategies, and family-centered support to enhance safety and participation.

Conclusion:

Physiotherapy plays a critical role in both early identification and intervention for rare pediatric diseases. These cases demonstrate how physiotherapists can act as frontline professionals in recognizing atypical developmental trajectories and initiating timely referrals. Integrating physiotherapy into routine pediatric screening programs in Saudi Arabia may facilitate earlier diagnosis, improve functional outcomes, and strengthen multidisciplinary, family-centered care.

Ramya Ramasamy Sanjeevi is a Lecturer in the Department of Physical Therapy, College of Nursing and Health Sciences, Jazan University, Saudi Arabia. She previously served as a Physiotherapy Specialist at the Ministry of Health, Saudi Arabia. She holds a Master’s degree in Pediatric Neuro Physical Therapy with a gold medal and is a certified Exercise Physiologist through the American College of Sports Medicine. With over 14 years of clinical and academic experience, she has published in Web of Science and Scopus journals, presented at international conferences, supervised student research, and is currently pursuing her PhD in Pediatric Physical Therapy.