Affiliation: Jazan University, Saudi Arabia

Presentation Type: Oral Presentation (Virtual)

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

🧠 Physiotherapy in Early Detection of Rare Pediatric Diseases: Insights from Saudi Arabia

🌍 Understanding the Hidden Burden

Rare pediatric neurological disorders often begin with subtle developmental delays and motor abnormalities that can easily go unnoticed in early childhood. In countries like Saudi Arabia, the burden of rare diseases is relatively higher due to factors such as genetic predisposition and consanguineous marriages.

Despite ongoing healthcare efforts, the prevalence of rare diseases remains significant. This highlights the need for early screening, timely diagnosis, and effective intervention strategies.

🏥 Why Physiotherapy Matters Early

Physiotherapists play a crucial role in pediatric care through:

· 👶 Developmental screening

· 🚶 Assessment of motor milestones and movement patterns

· ⚖️ Evaluation of balance and coordination

Because of their close observation of functional abilities and movement quality, physiotherapists are often among the first to identify atypical developmental signs. This positions them as key contributors in early detection and referral for rare diseases.

🔬 Case-Based Clinical Approach

This case series presents two pediatric patients evaluated at a physiotherapy department in Saudi Arabia. Each case highlights how detailed functional assessments led to early recognition of rare neurological conditions.

The approach included:

· 📊 Comprehensive motor and neuromotor evaluations

· 👨‍👩‍👧 Family-centered care planning

· 🤝 Collaboration with multidisciplinary medical teams

👶 Case 1: Early Clues in Motor Delay

A 2.5-year-old child presented with:

· Recurrent seizures

· Delayed motor development

During physiotherapy evaluation, abnormal neuromotor patterns were identified, prompting further neurological assessment. This led to the diagnosis of a rare neurometabolic condition (pyridoxine-dependent epilepsy).

🌱 Intervention Focus:

· Motor skill facilitation

· Caregiver education

· Play-based functional training

These interventions supported the child’s development alongside medical treatment.

🚶 Case 2: Recognizing Gait Abnormalities

A 3-year-old child was referred with:

· Progressive walking instability

· Frequent falls

Physiotherapy assessment revealed:

· ⚖️ Ataxia (loss of coordination)

· 👁 Oculomotor difficulties

· 🩸 Telangiectasia

These findings guided further genetic testing, confirming a rare leukodystrophic disorder (X-linked pyruvate dehydrogenase deficiency).

🌱 Intervention Focus:

· Balance and coordination training

· Adaptive movement strategies

· Family-centered support for safety and participation

🌟 The Bigger Picture: Role of Physiotherapy

These cases clearly demonstrate that physiotherapists are not just rehabilitation providers—they are also frontline identifiers of rare diseases.

Their role includes:

· 🔍 Detecting early developmental deviations

· 📢 Initiating timely referrals

· 🤝 Supporting multidisciplinary care

· 🏡 Empowering families through education

🚀 Moving Toward Better Pediatric Care

Integrating physiotherapy into routine pediatric screening programs can significantly improve:

· ⏱ Early diagnosis of rare diseases

· 🧩 Functional outcomes in affected children

· ❤️ Family-centered care and support systems

✨ Final Takeaway

Early detection can change the course of rare pediatric diseases. With their expertise in movement analysis and functional assessment, physiotherapists play a vital role in bridging the gap between early signs and accurate diagnosis.

🌱 Small observations today can lead to life-changing interventions tomorrow.

👩⚕️ About the Speaker

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.

🌍 Join the Global Conversation

Event: International Conference on Pediatrics, Neonatology & Child Health
📅 March 26–28, 2026
📍 Singapore & Online
🔗 Website: https://pediatrics.miconferences.com/
🔗 Register: https://pediatrics.miconferences.com/register
🔗 Abstract Submission: https://pediatrics.miconferences.com/abstract-submission

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