Showing 1-20 of 36 for: Essential Evidence Topics > Congenital problems 
- Abnormal gait in children
Essential Evidence Topics, 26-Nov-2021
Overall Bottom Line:
- Autism
Essential Evidence Topics, 26-Dec-2021
Overall Bottom Line: AAP guidelines (but not USPSTF) recommend screening all children at 18 and 24 months of age by using the M-CHAT tool. Refer children suspected of having an autism spectrum disorder (ASD) for both educational intervention services (s
- Celiac disease
Essential Evidence Topics, 9-Dec-2022
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, 3-Jun-2022
Overall Bottom Line: The use of electronic fetal monitoring, cesarean delivery, or any other intervention during delivery has not been shown to prevent cerebral palsy (CP) in term infants born to low-risk mothers. Magnesium sulfate given to women at ris
- Cleft lip and palate
Essential Evidence Topics, 19-Jul-2022
Overall Bottom Line: Cleft lip (CL) and cleft palate (CP) are common congenital defects and their cause is multifactorial. Phenytoin and cigarette smoking are two of the most consistent risk factors. Squeezable bottles containing breast milk or breastfe
- Cryptorchidism
Essential Evidence Topics, 25-Jan-2021
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. The United States Preven
- Developmental and intellectual delay (pediatric)
Essential Evidence Topics, 30-Jun-2021
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 ranges from 17.2% to 34.2%. For patie
- Down syndrome
Essential Evidence Topics, 21-Jan-2022
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, 29-Jun-2021
Overall Bottom Line: Fragile X is the most commonly inherited form of mental retardation. The most common neurobehavioral manifestation is autism spectrum disorder (ASD), which is present in 51% to 67% of males. Genetic testing is recommended for any
- Glucose-6-phosphate dehydrogenase deficiency
Essential Evidence Topics, 22-May-2020
Overall Bottom Line: Suspect glucose-6-phosphate dehydrogenase (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 G
- Hirschsprung’s disease
Essential Evidence Topics, 25-Nov-2021
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 disease
Essential Evidence Topics, 19-Jul-2021
Overall Bottom Line: Huntington 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 of the general population in most Wes
- Hydrocele
Essential Evidence Topics, 26-Jun-2019
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, 10-Mar-2021
Overall Bottom Line: Causes of antenatal hydronephrosis range from transient physiologic changes to severe underlying pathology; therefore, a thorough evaluation is warranted. Perform postnatal ultrasounds during the first week and first month of life i
- Hypospadias
Essential Evidence Topics, 7-Feb-2019
Overall Bottom Line: Circumcision is traditionally deferred upon discovery of hypospadias. Surgical repair is the only treatment. This is recommended between 6 and 18 months of life. Complication rates are higher for repair of proximal hypospadias co
- Intellectual disabilities (adult)
Essential Evidence Topics, 31-Dec-2021
Overall Bottom Line: In caring for adults with intellectual disability (ID), assess their capacity for decision making using a tool adapted to the patient, consider their need for accommodations and supports, and identify with them a support person who ca
- Lactose intolerance
Essential Evidence Topics, 15-Mar-2021
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
- Legg-Calve-Perthes disease
Essential Evidence Topics, 5-Jul-2021
Overall Bottom Line: Consider Legg-Calve-Perthes disease (LCPD) in a child that presents with a limp, hip pain, referred pain to the knee, limited range of motion in hip abduction and internal rotation, or antalgic gait. Obtain plain anteroposterior (AP)
- Marfan syndrome
Essential Evidence Topics, 16-Jul-2022
Overall Bottom Line: Suspect Marfan syndrome in patients with a tall, thin body; long limbs; arachnodactyly; pectus deformities; and scoliosis. Evaluation includes an echocardiogram and dilated eye exam. Although β-blockers are widely recommended and
- Meckel's diverticulum
Essential Evidence Topics, 17-Mar-2020
Overall Bottom Line: Meckel's diverticulum occurs in 0.3% to 2.9% 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 sli
