CUSTODIO, ANGELO M.

JANUARY 23, 2023

PATHOLOGIC OB Ma’am Eden Limcangco

➢ Without researching from the internet, list down at least five (5) congenital disorders
that you know of.

✓ Down syndrome
✓ Chicken pox
✓ Rubella
✓ Hernia
✓ Cleft lip

➢ Disorder : Down Syndrome

➢ Definition:
✓ Down syndrome is a genetic disorder caused when abnormal cell division results in an
extra full or partial copy of chromosome 21. This extra genetic material causes the
developmental changes and physical features of Down syndrome. Down syndrome
varies in severity among individuals, causing lifelong intellectual disability and
developmental delays. It's the most common genetic chromosomal disorder and cause
of learning disabilities in children. It also commonly causes other medical
abnormalities, including heart and gastrointestinal disorders.

➢ Complications
✓ People with Down syndrome can have a variety of complications, some of which become
more prominent as they get older. These complications can include:

• Heart defects. About half the children with Down syndrome are born with some
type of congenital heart defect. These heart problems can be life-threatening and
may require surgery in early infancy.

• Gastrointestinal (GI) defects. GI abnormalities occur in some children with Down

syndrome and may include abnormalities of the intestines, esophagus, trachea and
anus. The risk of developing digestive problems, such as GI blockage, heartburn
(gastroesophageal reflux) or celiac disease, may be increased.

• Immune disorders. Because of abnormalities in their immune systems, people with

Down syndrome are at increased risk of developing autoimmune disorders, some
forms of cancer, and infectious diseases, such as pneumonia.

• Sleep apnea. Because of soft tissue and skeletal changes that lead to the obstruction
of their airways, children and adults with Down syndrome are at greater risk of
obstructive sleep apnea.

• Obesity. People with Down syndrome have a greater tendency to be obese

compared with the general population.

• Spinal problems. Some people with Down syndrome may have a misalignment of
the top two vertebrae in the neck (atlantoaxial instability). This condition puts them
at risk of serious injury to the spinal cord from overextension of the neck.

• Leukemia. Young children with Down syndrome have an increased risk of

leukemia.
 • Dementia. People with Down syndrome have a greatly increased risk of dementia
— signs and symptoms may begin around age 50. Having Down syndrome also
increases the risk of developing Alzheimer's disease.

• Other problems. Down syndrome may also be associated with other health
conditions, including endocrine problems, dental problems, seizures, ear infections,
and hearing and vision problems.

For people with Down syndrome, getting routine medical care and treating issues when needed
can help with maintaining a healthy lifestyle.

➢ Management/Treatment

Early intervention for infants and children with Down syndrome can make a major difference in
improving their quality of life. Because each child with Down syndrome is unique, treatment will
depend on individual needs. Also, different stages of life may require different services.

If your child has Down syndrome, you'll likely rely on a team of specialists that can provide
medical care and help him or her develop skills as fully as possible. Depending on your child's
particular needs, your team may include some of these experts:

• Primary care pediatrician to coordinate and provide routine childhood care

• Pediatric cardiologist

• Pediatric gastroenterologist

• Pediatric endocrinologist

• Developmental pediatrician

• Pediatric neurologist

• Pediatric ear, nose and throat (ENT) specialist

• Pediatric eye doctor (ophthalmologist)

• Audiologist

• Speech pathologist

• Physical therapist

• Occupational therapist

You'll need to make important decisions about your child's treatment and education. Build a team
of health care providers, teachers and therapists you trust. These professionals can help evaluate
the resources in your area and explain state and federal programs for children and adults with
disabilities.

When you learn your child has Down syndrome, you may experience a range of emotions,
including anger, fear, worry and sorrow. You may not know what to expect, and you may worry
about your ability to care for a child with a disability. The best antidote for fear and worry is
information and support.
Consider these steps to prepare yourself and to care for your child:

• Ask your health care provider about early intervention programs in your
area. Available in most states, these special programs offer infants and young
children with Down syndrome stimulation at an early age (typically until age 3) to
help develop motor, language, social and self-help skills.

• Learn about educational options for school. Depending on your child's needs, that
may mean attending regular classes (mainstreaming), special education classes or
both. With your health care team's recommendations, work with the school to
understand and choose appropriate options.

• Seek out other families who are dealing with the same issues. Most communities
have support groups for parents of children with Down syndrome. You can also
find internet support groups. Family and friends can also be a source of
understanding and support.

• Participate in social and leisure activities. Take time for family outings and look in
your community for social activities such as park district programs, sports teams or
ballet classes. Although some adaptations may be required, children and adults with
Down syndrome can enjoy social and leisure activities.

• Encourage independence. Your child's abilities may be different from other

children's abilities, but with your support and some practice your child may be able
to perform tasks such as packing lunch, managing hygiene and dressing, and doing
light cooking and laundry.

• Prepare for the transition to adulthood. Opportunities for living, working, and social
and leisure activities can be explored before your child leaves school. Community
living or group homes, and community employment, day programs or workshops
after high school require some advance planning. Ask about opportunities and
support in your area.

• Expect a bright future. Most people with Down syndrome live with their families or
independently, go to mainstream schools, read and write, participate in the community,
and have jobs. People with Down syndrome can live fulfilling lives.