Showing 1-20 of 32 for: Essential Evidence Topics > Congenital problems 
- Abnormal gait in children
Essential Evidence Topics, 3-Jan-2013
Overall Bottom Line:
- Autism
Essential Evidence Topics, 11-Feb-2012
Overall Bottom Line: Screen all children at 18 and 24 months of age with an ASD specific screening tool.
Refer children suspected of having an ASD for both educational intervention services and a comprehensive ASD evaluation simultaneously.
All chil
- Celiac disease
Essential Evidence Topics, 26-May-2012
Overall Bottom Line: Celiac disease typically presents with bloating, flatulence/gas, chronic unexplained diarrhea, irritable bowel syndrome, constipation, abdominal pain, nausea, loss of appetite, and symptoms since childhood. IgA antiendomysial and IgA
- Cerebral palsy
Essential Evidence Topics, 15-Jan-2011
Overall Bottom Line: The use of electronic fetal monitoring, cesarean delivery, or any other intervention during delivery have not been shown to prevent cerebral palsy (CP) in term infants born to low-risk mothers. Children suspected of having CP based
- Cleft lip and palate
Essential Evidence Topics, 28-Jan-2013
Overall Bottom Line: Cleft lip (CL) and cleft palate (CP) are common congenital defects and their cause is multifactorial. Phenytoin and cigarette smoking are 2 of the most consistent risk factors. Squeezable bottles or breastfeeding are preferred feedi
- Cryptorchidism
Essential Evidence Topics, 6-Oct-2012
Overall Bottom Line: Most children with cryptorchidism present at birth with nonpalpable testes on routine examination; further diagnostic testing is not routinely recommended. After 6 months, spontaneous descent is very rare. Repair undescended teste
- Developmental and intellectual delay (pediatric)
Essential Evidence Topics, 17-Nov-2012
Overall Bottom Line: Adhere to standard recommendations regarding prenatal and perinatal screening and prenatal, perinatal, and postnatal prevention of mental retardation. The diagnostic yield of clinical assessment lies between 17.2% and 34.2%. For pat
- Down syndrome
Essential Evidence Topics, 20-Oct-2012
Overall Bottom Line: Serum screening for pregnancy-associated plasma protein A (PAPP-A) and free beta-human chorionic gonadotropin (HCG) with nuchal translucency measurement is an effective first-trimester screen for Down syndrome. Offer invasive genetic
- Fragile X Syndrome
Essential Evidence Topics, 17-Nov-2012
Overall Bottom Line: Fragile X is the most commonly inherited form of mental retardation. The most common neurobehavioral manifestation is autism spectrum disorder, which is present in 67% of males. Genetic testing is recommended for any individuals w
- Glucose-6-Phosphate dehydrogenase deficiency
Essential Evidence Topics, 1-Dec-2012
Overall Bottom Line: Suspect G6PD deficiency in patients with acute non-immune hemolysis caused by drugs, oxidative stress or infection, as well as in infants with neonatal jaundice. Confirm diagnosis with a test of G6PD enzyme activity, a fluorescent a
- Hirschsprung’s disease
Essential Evidence Topics, 3-Jan-2013
Overall Bottom Line: Rectal biopsy provides the definitive diagnosis of Hirschsprung’s disease. If less than 3 years old, get suction rectal biopsy. If greater than 3 years old, get barium enema and/or anorectal manometry. Surgery is required to remov
- Huntington's disease
Essential Evidence Topics, 26-May-2012
Overall Bottom Line: Huntington's disease (HD) is an inherited progressive neurodegenerative disorder characterized by choreiform movements, dystonia, psychiatric problems, and dementia. HD affects 5 to 10 per 100,000 white individuals, with a lower pre
- Hydrocele
Essential Evidence Topics, 28-Jan-2013
Overall Bottom Line: Diagnosis of hydrocele can be made by examination; order ultrasound if any uncertainty exists that hydrocele is the sole pathology. Asymptomatic noncommunicating hydroceles can safely go untreated. Communicating or symptomatic hyd
- Hydronephrosis in infants
Essential Evidence Topics, 15-Apr-2013
Overall Bottom Line: Perform postnatal ultrasounds during the first week and first month of life in infants previously diagnosed with antenatal hydronephrosis. If both tests come back normal, no further workup is necessary. In patients with persistent h
- Hypospadias
Essential Evidence Topics, 15-Dec-2012
Overall Bottom Line: Circumcision should be deferred upon discovery of hypospadias. Surgical repair is the only treatment.
- Intellectual disabilities (adult)
Essential Evidence Topics, 4-Aug-2012
Overall Bottom Line: Measurement of IQ and assessment of adaptive skills level are essential to diagnosis. Screening for inborn errors of metabolism, cytogenetic testing and neuroimaging should be ordered if not previously performed. Provide routine h
- Lactose intolerance
Essential Evidence Topics, 6-Oct-2012
Overall Bottom Line: Suspect lactose intolerance (LI) if symptoms of abdominal pain, diarrhea, bloating, and/or flatulence occur after the ingestion of lactose or lactose-containing products. The diagnosis of LI can be confirmed by hydrogen breath analy
- Marfan syndrome
Essential Evidence Topics, 20-Oct-2012
Overall Bottom Line: Suspect Marfan syndrome in patients with a tall, thin body; long limbs; arachnodactyly; pectus deformities; and scoliosis. Although β-blockers are widely recommended, they have not been shown in clinical trials to be effective to pr
- Meckel's diverticulum
Essential Evidence Topics, 25-Feb-2013
Overall Bottom Line: Meckel's diverticulum occurs in 1% to 4% of the population and most often remain asymptomatic during a lifetime. Meckel's diverticulum should be considered as the source of GI bleeding in young children that is bright red to slightl
- Meningomyelocele
Essential Evidence Topics, 11-Mar-2013
Overall Bottom Line: Ninety-five percent of myelomeningocele are diagnosed prenatally with the combination of ultrasound and alpha-fetoprotein on maternal serum. Patients are prone to neurogenic bladder and pathologic bone fractures. Periconceptual fo
