Downs Syndrome Diagnosis: What Now?

Symptoms vary from child to child and can range from mild to severe.

Physical characteristics of children with Down syndrome have a widely recognized appearance.

The head may be smaller than normal and abnormally shaped. For example, the head may be round with a flat area on the back. The inner corner of the eyes may be rounded instead of pointed.

Physical and Social Traits

• Decreased muscle tone and strength
• Excess skin at the nape of the neck
• Shorter neck length
• Flattened nose bridge
• Separated joints between the bones of the skull(sutures)
• Single crease (Simian Crease) in the palm of the hand
• Smaller than normal ears, mouth and eyes
• White spots on the colored part of the eye (Brushfield spots)
• Upward slanting eyes
• Wide, short hands with short fingers

Physical development is often slower than normal. Children will meet their motor milestones usually from 6-9 months after typical development timetables.

Children may also have delayed mental and social development.

Common problems may include:

• Impulsive behavior
• Poor judgment
• Short attention span
• Slow learning

Downs Syndrome Medical Conditions

• Birth defects involving the heart, such as an atrial septal defect or ventricular septal defect
• Dementia, Alzheimer's type may be seen
• Eye problems, such as cataracts (most children with Down syndrome need glasses)
• Early and massive vomiting, which may be a sign of a gastrointestinal blockage, such as esophageal atresia and duodenal atresia
• Hearing problems, probably caused by regular ear infections
• Hip problems and risk of dislocation
• Atlantoaxial subluxation (AAI). AAI involves increased mobility at the joint where the first cervical vertebrae meets the second (the atlantoaxial joint).
• Long-term (chronic) constipation problems
• Sleep apnea (because the mouth, throat, and airway are narrowed in children with Down syndrome)
• Teeth that appear later than normal and in a location that may cause problems with chewing
• Underactive thyroid (hypothyroidism) Most children with Down syndrome never reach an average adult height

Gastrointestinal Issues for Individuals with Downs Syndrome

Babies with Downs syndrome have an increased likelihood of developing medical conditions that interrupt or interfere with this digestion. Some of these medical issues can be managed by a person’s primary care physician; others might require the added recommendations of a GI specialist.

Approximately 3% of infants are born with an imperforate anus, meaning that there is no open anus from which stool can be passed. This is easily identified when a physician examines a baby for the first time and can be corrected with a simple surgery.

Between 2-15% of infants are born with Hirschsprung Disease, which results when the last part of their large intestine does not function properly due to a lack of certain nerve cells. As a result, children cannot properly expel stool. Symptoms of Hirschsprung disease in early infancy include a swollen abdomen, vomiting, and an inability to expel stool. However, a definitive diagnosis is made by a rectal biopsy (removal of a small piece of rectal tissue for examination under the microscope). The treatment involves surgically removing the portion of colon that does not function properly.

If a newborn has severe vomiting from birth, he or she might be among the approximately 5% of babies with Down syndrome who have a duodenal obstruction, which means that the first part of the small intestine—the duodenum—becomes blocked. The end result is that digested food cannot pass through the duodenum; surgery is curative.

If a newborn is bubbling up milk during feeds and has frequent choking episodes, he or she might be among the 1% of the babies who have a tracheoesophageal fistula an inappropriate connection between the trachea (the body’s wind pipe) and the esophagus (the body’s swallowing tube). With this condition, food inappropriately enters the wind pipe and the lungs. The diagnosis can be made by passing a tube down a baby’s nose and/or through a chest X-ray. Surgical correction is curative.

Reflux—medically known as gastroesophageal reflux disorder (GERD)—is a condition that results when acidic stomach contents travel backwards up the esophagus, a person’s swallowing tube. Based on the current studies available, between 1-5% of children with Down syndrome have GERD and experience symptoms such as heartburn or intolerance with certain foods. In babies, reflux is typically expressed as intense back arching and crying during feeding. GERD typically results when the muscular ring at the end of the esophagus becomes relaxed, allowing the stomach contents to track backwards. Medication therapies result in significant improvements for most individuals. In certain cases, a consultation with a GI specialist might be helpful as additional testing can be done.

Constipation is another common problem. Poor diet and lack of exercise, week stomach muscles,are among many reasons causes.

Hypothyroidism results when the body’s thyroid gland does not produce enough thyroid hormone, which regulates many activities in the body, including bowl movements. This can be diagnosed with a simple blood test and treated with synthetic thyroid hormone.

Celiac disease is a condition where the body is unable to properly digest barley, rye, and wheat products. As the condition can range from mild to severe, the symptoms can also vary including difficulty gaining weight, diarrhea, vomiting, or constipation. An initial diagnosis can be made through a simple blood test, but a definitive test requires a special procedure from a GI specialist.

Obesity has been linked to secondary health problems such as high blood pressure, obstructive sleep apnea, and diabetes. Building healthy eating habits while a child is young is key to preventing obesity in adolescence and adulthood. As such, paying close attention to the weight of a person with Down syndrome is of prime importance to his or her lifelong health. Oftentimes, working closely with a nutritionist is beneficial to families.

Treatments and Therapies

Behavioral training can help families deal with their childrens' frustration, anger, and compulsive behaviors.

Special education and training is offered in most communities for children with delays in mental development.

Speech therapy may help improve language skills. Physical therapy may teach movement skills.

Occupational therapy may help with feeding,fine motor skills,cognitive and self help tasks.

Physical therapy may help with increasing strength and coordination.

Mental health care can help both parents and the child manage mood or behavior problems.

What are the Causes and Preventions for Down Syndrome

A woman's risk increases as she gets older. The risk is significantly higher among women age 35 and older.

Couples who already have a baby with Downs syndrome have an increased risk of having another baby with the condition.

Tests such as nuchal translucency ultrasound, amniocentesis, or chorionic villus sampling can be done on a fetus during the first few months of pregnancy to check for Down syndrome.

The American College of Obstetricians and Gynecologists recommends offering screening tests to all pregnant women, regardless of age.

Long Tern Outcomes.

Downs Syndrome

Special Needs

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