ABSTRACT
Inborn errors of metabolism are the cause of developmental delay in only a small percentage of cases; however, they are important to identify as some may be treatable and improve the outcome for the child. The incidence of inborn errors of metabolism varies between populations and is a rare cause of isolated developmental delay. A hypotonic infant is commonly referred to as a ‘floppy infant’. Hypotonia implies decreased muscle resistance to passive movement. Regression or progressive intellectual and neurological deterioration occurs in children who have progressive deterioration in developmental skills for more than 3 months, with loss of already attained intellectual or developmental abilities and the development of abnormal neurological signs. Referral to the early intervention service is indicated if a child has delay in two domains. The child developmental team is a multidisciplinary team involved in both the assessment and management of children with developmental delay.
