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Better Kid Care and Child Development Health
Screening for enzyme deficiency:
The U.S. Preventive Services Task Force (USPSTF) recommends screening newborns between 24 hours and 7 days of age for phenylketonuria (PKU) (4). PKU is a gene mutation causing deficiency of the enzyme used to metabolize phenylalanine which will result in buildup of phenylketone resulting in mental retardation or seizures if not treated (4).
Screening for genetic blood disease:
The USPSTF recommends screening newborns for sickle cell disease (5).
Hearing test:
The USPSTF supports the American Academy of Pediatrics Joint Committee on Infant Hearing in recommending screening for hearing impairment under 1 month of age, followed by a comprehensive audiological testing by 3 months of age (32,5). Those with hearing loss should be treated to improve hearing by 6 months of age. Primary pediatric care should also provide assessment of communication skill development during routine visits starting at 2 months of age. (7)