MBBS at Imam Abdulrahman bin Faisal University 2008
Pediatric residency program Consultant 2013
SCFHS certified peditatric consultant 2016
Pediatric neurology fellowship in Sydney children's hospital, AU 2018-2019
Consultant Pediatrics and pediatric neurologist since March 2019 at KFHU Alkhobar and SCFHS certified peditatric neurologist on October 2019
RESEARCH INTERESTS
Pediatric neurology
3
Scopus Publications
Scopus Publications
Bone Mineral Density in Children with Cerebral Palsy: Associations with Anthropometric and Clinical Characteristics—A Cross-Sectional Study Aqeelah Abdulelah Aljishi, Mohammed A. Al-Omari, Ayat H. Al Safar, Shahad A. AlHazzaa, Alaa I. Ibrahim Children, 2025 Background/Objectives: Cerebral palsy (CP) is the most common cause of neurological disability in children and is frequently associated with low bone mineral density (BMD) and increased risk of fractures. This study aimed to assess BMD in children with CP, compare it with normative standards, and explore potential associations with anthropometric parameters and the clinical characteristics of children with CP. Methods: Thirty-six children with CP aging 6–15 years from both sexes with varying levels of Gross Motor Functional Classification System (GMFCS) and spasticity were evaluated. Areal BMD and Z-scores (total and subtotal) were measured using dual-energy X-ray absorptiometry (DXA). Regression analysis identified predictors of BMD. Results: Children with GMFCS levels III–V had significantly lower total and subtotal Z-scores compared to those with levels I–II (p = 0.001 and p = 0.02, respectively). Total Z-score was significantly predicted by weight (β = 1.02, p = 0.002), height (β = −0.72, p = 0.02), and sedentary time (β = −0.47, p = 0.005). “No walking” was the only significant predictor for subtotal Z-score (β = −0.50, p = 0.004). Conclusions: Children with moderate to severe CP exhibited significantly lower BMD, particularly those with limited ambulation and higher spasticity levels. These findings underscore the importance of early screening and targeted interventions to optimize bone health in this population.
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia Scott Barish, Sheng-Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Aurélien Trimouille, Marta Biderman Waberski, Tadahiro Mitani, Ilka Huber, Kristian Tveten, Øystein L. Holla, Øyvind L. Busk, Henry Houlden, Ehsan Ghayoor Karimiani, Mehran Beiraghi Toosi, Reza Shervin Badv, Paria Najarzadeh Torbati, Fatemeh Eghbal, Javad Akhondian, Ayat Al Safar, Abdulrahman Alswaid, Giovanni Zifarelli, Peter Bauer, Dana Marafi, Jawid M. Fatih, Kevin Huang, Cassidy Petree, Daniel G. Calame, Charlotte von der Lippe, Fowzan S. Alkuraya, Sami Wali, James R. Lupski, Gaurav K. Varshney, Jennifer E. Posey, Davut Pehlivan American Journal of Human Genetics, 2024
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications Erik Rosenhahn, Thomas J. O’Brien, Maha S. Zaki, Ina Sorge, Dagmar Wieczorek, Kevin Rostasy, Antonio Vitobello, Sophie Nambot, Fowzan S. Alkuraya, Mais O. Hashem, Amal Alhashem, Brahim Tabarki, Abdullah S. Alamri, Ayat H. Al Safar, Dalal K. Bubshait, Nada F. Alahmady, Joseph G. Gleeson, Mohamed S. Abdel-Hamid, Nicole Lesko, Sofia Ygberg, Sandrina P. Correia, Anna Wredenberg, Shahryar Alavi, Seyed M. Seyedhassani, Mahya Ebrahimi Nasab, Haytham Hussien, Tarek E.I. Omar, Ines Harzallah, Renaud Touraine, Homa Tajsharghi, Heba Morsy, Henry Houlden, Mohammad Shahrooei, Maryam Ghavideldarestani, Ghada M.H. Abdel-Salam, Annalaura Torella, Mariateresa Zanobio, Gaetano Terrone, Nicola Brunetti-Pierri, Abdolmajid Omrani, Julia Hentschel, Johannes R. Lemke, Heinrich Sticht, Rami Abou Jamra, Andre E.X. Brown, Reza Maroofian, Konrad Platzer American Journal of Human Genetics, 2022 PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly. Further common clinical findings included muscular hyper- and hypotonia, spasticity, failure to thrive and short stature, feeding difficulties, impaired vision, and congenital heart defects. Neuroimaging revealed abnormalities of brain morphology with leukoencephalopathy, ventriculomegaly, cortical abnormalities, and intracranial periventricular calcifications as major features. In a fetus with intracranial calcifications, we identified a rare homozygous missense variant that by structural analysis was predicted to disturb the topology of the SAM domain region that is essential for protein-protein interaction. For further insight into the effects of PPFIBP1 loss of function, we performed automated behavioral phenotyping of a Caenorhabditis elegans PPFIBP1/hlb-1 knockout model, which revealed defects in spontaneous and light-induced behavior and confirmed resistance to the acetylcholinesterase inhibitor aldicarb, suggesting a defect in the neuronal presynaptic zone. In conclusion, we establish bi-allelic loss-of-function variants in PPFIBP1 as a cause of an autosomal recessive severe neurodevelopmental disorder with early-onset epilepsy, microcephaly, and periventricular calcifications.
Publications
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
