14 / 17
Page 53
allied
academies
Journal of Current Pediatric Research | Volume: 23
March 14-15, 2019 | London, UK
International Conference on
Pediatrics & Neonatal Healthcare
I
ntellectual disability (ID) affects 2.5% of population
worldwide. 85% of the treatable conditions known to
cause global developmental delay or intellectual disability
in children. Misdiagnosis is common and these disorders
can mimic conditions like cerebral palsy. Recommendations
to investigate possible metabolic or genetic aetiologies of
intellectual disability are based on conditions and on the
yield of diagnostic methods, rather than availability of causal
therapy. Inborn errors of metabolism are subgroup of rare
genetic/metabolic conditions for which an increasing number
of treatments are now available. Some common causes of
disorders of ID include disorder of amino acids cholesterol
and fatty acids, creatine, glucose and its transport, lysosomes,
metals, mitochondria, neurotransmission, organic acids,
peroxisomes, urea cycle, and vitamins/co-factors. All
these disorders can be identified by metabolic screening
tests in the blood (plasma amino acids, etc.) and urine
(creatine metabolites, glycosaminoglycans, etc.). Further
or secondary tests depend on the results of these primary
tests. Therapeutic modalities include sick-day management,
dietary interventions, co-factor/vitamin supplements,
substrate inhibition, stem cell transplant and gene therapy.
Early interventions can improve or stabilize child’s cognitive
and behavioral development, control the seizures or other
neurological manifestations.
e:
zshahhosseini@yahoo.comTreatable causes of intellectual disability in children
Vivek Mundada
Princess of Wales Hospital, UK
Curr Pediatr Res, Volume 23
DOI: 10.4066/0971-9032-C1-012