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Management

Health Screening

A number of health organizations have issued recommendations for screening those with Down syndrome for particular diseases. This is recommended to be done systematically.

At birth, all children should get an electrocardiogram and ultrasound of the heart. Surgical repair of heart problems may be required as early as three months of age. Heart valve problems may occur in young adults, and further ultrasound evaluation may be needed in adolescents and in early adulthood. Due to the elevated risk of testicular cancer, some recommend checking the person's testicles yearly.

Cognitive Development

Hearing aids or other amplification devices can be useful for language learning in those with hearing loss. Speech therapy may be useful and is recommended to be started around nine months of age. As those with Down syndrome typically have good hand-eye coordination, learning sign language may be possible. Augmentative and alternative communication methods, such as pointing, body language, objects, or pictures, are often used to help with communication. Behavioral issues and mental illness are typically managed with counseling or medications.

Education programs before reaching school age may be useful. School-age children with Down syndrome may benefit from inclusive education (whereby students of differing abilities are placed in classes with their peers of the same age), provided some adjustments are made to the curriculum. Evidence to support this, however, is not very strong. In the United States, the Individuals with Disabilities Education Act of 1975 requires public schools generally to allow attendance by students with Down syndrome.

Individuals with Down syndrome may learn better visually. Drawing may help with language, speech, and reading skills. Children with Down syndrome still often have difficulty with sentence structure and grammar, as well as developing the ability to speak clearly. Several types of early intervention can help with cognitive development. Efforts to develop motor skills include physical therapy, speech and language therapy, and occupational therapy. Physical therapy focuses specifically on motor development and teaching children to interact with their environment. Speech and language therapy can help prepare for later language. Lastly, occupational therapy can help with skills needed for later independence.

Surgical Interventions

Tympanostomy tubes are often needed and often more than one set during the person's childhood. Tonsillectomy is also often done to help with sleep apnea and throat infections. Surgery, however, does not always address the sleep apnea, in which case a continuous positive airway pressure (CPAP) machine may be useful. Physical therapy and participation in physical education may improve motor skills. Evidence to support this in adults, however, is not very good.

Plastic surgery has been suggested as a method of improving the appearance and thus the acceptance of people with Down syndrome. It has also been proposed as a way to improve speech. Evidence, however, does not support a meaningful difference in either of these outcomes. Plastic surgery on children with Down syndrome is uncommon, and continues to be controversial. The U.S. National Down Syndrome Society views the goal as one of mutual respect and acceptance, not appearance.

Musculoskeletal problems are seen in approximately 20% of individuals with Down syndrome. These problems often arise from ligament laxity and hypotonia. An article in the Journal of the American Academy of Orthopaedic Surgeons explains diagnoses resulting from musculoskeletal problems can be painful if left untreated. Hip instability affects between 2% and 5% of individuals with Down syndrome and can be caused by an atypical acetabulum morphology, ligament laxity, hypermobility, or a combination of the three. Patients with hip instability are prone to dislocations. Additionally, rates of arthritis are increasing as the lifespan of individuals with Down syndrome extend; 28% of adults with Down syndrome have hip abnormalities. In young children, a closed reduction and immobilization is often attempted prior to surgical intervention. If this is unsuccessful, surgical intervention is often necessary. Surgery type depends on the etiology of the hip abnormality. Patients with an atypical acetabulum may require an acetabular osteotomy, whereas patients with a typical acetabulum may require a femoral varus derotation osteotomy. Complications relating to surgical intervention of hip instability are not uncommon. Knee instability, specifically patellofemoral instability, is prevalent in 10% to 20% of patients with Down syndrome. Most people with this knee instability experience very little pain; however, they may be more susceptible to arthritis in the future. Nonsurgical treatment often includes physical therapy and orthotics. If nonsurgical treatment is unsuccessful, surgical intervention focusing on the patellar tendon and soft tissues may be necessary. In a 2006 study, Ali, et al. explain cervical spine instability is also prevalent in patients with Down syndrome. Alantoaxial instability (AAI) is estimated to affect 10%-20% of people with Down syndrome. The main cause of AAI is laxity of the transverse atlantal ligament. AAI is characterized by increased mobility of the C2 vertebra compared to the C1 vertebra. Of those diagnosed with AAI, about 1%-2% are symptomatic. Symptoms include neck discomfort, abnormal gait, alterations in sphincteric control, upper motor neuron lesions, paralysis and in severe cases, death. Surgical intervention is often encouraged in symptomatic patients and often includes spinal fusion. Recommendations for asymptomatic patients include frequent follow up and avoidance of activities that could lead to neck injury.

Gastrointestinal abnormalities are also common among those with Down syndrome. In an editorial published by the Research Institute for Gastroenterology and Liver Diseases, Holmes explains these abnormalities further. Between 6%-7.3% of children with Down syndrome are thought to have gastrointestinal malformations. Symptoms of these malformations include vomiting, diarrhea, constipation, or abdominal discomfort. While many of these symptoms are likely to resolve over time, they may result in structural or functional disorders. Structural problems extending from the mouth to anus are thought to occur in similar frequencies to the general public; however, other particular conditions may be more common. These conditions include esophageal, duodenal or small intestine atresia or stenosis, annular pancreas, which can lead to obstruction of the small intestine, imperforate anus and Hirschsprung disease. If an obstruction occurs prior to birth, a postnatal intervention will likely occur; other bowel obstructions require surgical interventions immediately. An imperforate anus is also likely to require surgical intervention. Other gastrointestinal disorders common in people with Down Syndrome, such as obesity and celiac disease, often do not require surgical intervention and can be managed with alterations in diet.

In a study conducted by Abbag, he explains that congenital heart disease (CHD) can affect up to 61.3% of individuals with Down syndrome. The etiology of CHD is multifactorial; however, the most common cause is a atrioventricular septal defect. Abnormalities in the left or right shunt can lead to pulmonary congestion which can causes respiratory distress and increased pneumonia susceptibility. It is recommended that all infants with Down syndrome are referred to a surgeon for screening and surgical intervention if needed.

Non-Surgical Interventions

Efforts to prevent respiratory syncytial virus (RSV) infection with human monoclonal antibodies should be considered, especially in those with heart problems. In those who develop dementia there is no evidence for memantine, donepezil, rivastigmine, or galantamine.

Many alternative medical techniques are used in Down syndrome; however, they are poorly supported by evidence. These include dietary changes, massage, animal therapy, chiropractic, and naturopathy. Some proposed treatments may also be harmful.