Ayman Daka
Edmond and Lily Safra Children's Hospital, IsraelPresentation Title:
Distinct growth characteristics in Angelman syndrome
Abstract
Objectives: Angelman syndrome (AS) is a rare, genetic, neurodevelopmental disorder characterized by severe impairments in speech, cognition, and motor skills accompanied by unique behaviors, distinct facial features, and a high prevalence of epilepsy and sleep problems. Despite some reports of short stature among AS patients, this feature is not included in the clinical criteria defined in 2005. We investigated growth patterns among AS patients with respect to mutation type, growth periods, family history, and endocrine abnormalities.
Methods: Data was collected from patients' medical files at the AS national clinic. Mutation subtypes were divided into deletion and non-deletion. Four growth periods were defined: preschool, childhood, peak height velocity, and final height.
Results: The cohort included 88 individuals (46 males), with 54 (61.4%) carrying deletion subtype. A median of 3 observations per individual (range 1-10), produced 280 data points. Final-height-SDS was significantly lower compared to the general population (-1.23±1.26, p<0.001), and in the deletion group vs. non-deletion (-1.67±1.3 vs. -0.65±0.96, p=0.03). Final height-SDS was significantly lower compared to height-SDS in preschool period (-1.32 vs -0.47, p=0.007). The patient's final-height-SDS was significantly lower than the parents' (∆final-height-SDS=0.94±0.99, p=0.002). IGF1-SDS was significantly decreased compared to the general population (-0.55±1.61, p=0.04), with lower values among the deletion group (-0.70±1.4S4, p=0.01).
Conclusion: AS patients demonstrate unique growth pattern with deceleration during childhood and adolescence resulting in significantly decreased final height compared to normal population, and even lower among deletion subgroup, which could be attributed to reduced IGF1 levels. We propose adding short stature to the clinical criteria and developing adjusted growth curves for AS population.
Keywords: Angelman syndrome, deletion, non-deletion, growth curves, short stature, height, IGF1
Biography
Ayman Daka, currently residing in Zemer, is a dedicated pediatrician with a strong academic and clinical background. He began his medical education at Tel Aviv University in 2011 and graduated in September 2017, having successfully passed all government licensing examinations. During his studies, he completed clinical rotations in Internal Medicine at Sheba Medical Center, Pediatrics at Schneider Children’s Medical Center, and additional rotations across various central hospitals. His final project, conducted in Schneider’s Pediatric ICU, was published in an international pharmaceutical journal, marking an early start to his contribution to medical research. He completed his internship at Hillel Yaffe Medical Center in December 2017 and went on to pursue a pediatric residency at Sheba Medical Center from February 2019 to August 2023. He also led research on growth in Angelman Syndrome, published in Hormone Research in Pediatrics, and presented at various conferences including the IES National Endocrinology Conference (Tel Aviv, 2023), HIPAK (2023), ICNC (Antalya, 2022), and EPNS (Rome, 2022). Furthermore, he co-authored papers published in international journals on the use of Triclophos for sedation in PICU and on metabolic and genetic disorders. His research contributions also include basic science work on inflammatory bowel disease prevalence in preterm and low-weight infants at Maccabi’s KSM Institute. Additional highlights of his research portfolio include presentations on osteomyelitis in children with KTS syndrome at HIPAK 2020 and a novel GNAO1 gene mutation study presented at HIPAK 2022 and Sheba Research Day.
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