Introduction: Neurodevelopmental disability (NDD) is a common problem in children health, occurring in 510% of the pediatric population.
Aim: To evaluate the endocrine and metabolic complications described in patients with NDD.
Material and method: Children with NDD, aged below 9 years old, admitted to 1st Pediatric Clinic of Children Emergency Hospital, Timişoara, România, between January 2014-March 2016 were included in this study. Their evaluation was complex and included a detailed medical history, clinical and anthropometric evaluation, Tanner stages, multiple serum analyses and sophisticated imagistic investigations.
Results: A total of 15 children (53.33% boys) diagnosed with NDD, with a mean age of 6.5±1.9 years were eligible for this study. The main complaints of patients were in 93.33% developmental delay and in 6.67% developmental regression. Cerebral palsy was the most common clinical syndrome (60%), being caused mostly by perinatal hypoxic-ischemic encephalopathy (55.56%) and prematurity with intraventricular haemorrhage (33.33%). Metabolic disorders were diagnosed in 13.33% of patients (one with phenylketonuria and one with renal tubular acidosis), while one had clinical manifestations of neurodegenerative disorders (X-linked adrenoleukodystrophy). Severe malnutrition was encountered in 66.67% of them and short stature in 60%. Hypocalcemia with vitamin D deficiency (60%), hypophosphatemic rickets (6.67%), osteopenia (20%) and osteogenesis imperfecta (6.67%) were responsible for atraumatic fractures in almost one third of cases, especially in patients with seizures treated with an association of two (50%) or more anticonvulsivants (33.33%) and difficulty feeding problems (66.67%). Four children with subclinical hypothyroidism and one with adrenal insufficiency were identified in this group. Premature sexual development consisted in the presence of premature adrenarche (46.67%), premature thelarche (33.33%) and central precocious puberty in two girls (13.33%).
Conclusion: Evaluation of endocrine and metabolic complications in patients with NDD is essential and helps for appropriate rehabilitation, family counseling and management of these associated medical conditions.
Keywords: neurodevelopmental disability, children, central precocious puberty, hypocalcemia
10 - 12 Sep 2016
European Society for Paediatric Endocrinology