Down syndrome (DS), or trisomy 21, is the most common genetic cause of
developmental disabilities and mental retardation. It is caused by a baby
getting extra genetic material from
Although sometimes diagnosed prenatally because of an abnormal (low) serum
alpha-fetoprotein or after an amniocentesis or chorionic-villus sampling
is done in an at risk pregnancy with the finding of abnormal chromosomes, most
children are diagnosed at birth because of typical clinical
manifestations or findings. These include having poor muscle tone, a small
head, flat nasal bridge, upward slanting eyes or palpebral fissures, epicanthal
folds, small ears, small mouth, single palmer crease, short fifth finger that
turns inward (clinodactyly), excess skin fold at the nape of the neck, large
tongue, and a large space between the fourth and fifth toes.
Newborns may be suspected of having trisomy 21 if they have many of the above
clinical findings, especially if they have a medical problem that is associated
with this condition and for which they are at increased risk, including a 50%
risk of congenital heart defects (atrioventricular canal, tetralogy of
Fallot, ASDs, PDAs, VSDs) and a 12% risk of gastrointestinal problems (TE
Fistula, duodenal atresia (a congenital blockage of the small intestines), or
pyloric stenosis).
They are also at increased risk for hypothyroidism (a low thyroid
hormone level), eye abnormalities (cataracts, strabismus, nystagmus,
glaucoma and refractive errors), hearing loss and deafness (usually from
repeated ear infections), mental retardation (ranging from mild (IQ
50-70), moderate (IQ 35-50), and sometimes severe (IQ 20-35), developmental
delays (including speech and motor delays), leukemia (<1 b="" dislocation="" hip="" risk="">constipation, obstructive sleep apnea, poor
growth (special growth charts are available to plot your child's growth),
dental abnormalities, atlantoaxial instability, obesity, seizures and very
dry skin.
In the nursery, children who are suspected of having trisomy 21 will
usually have an evaluation to make sure he doesn't have a heart problem. This
will include an EKG, chest x-ray, and a cardiology consult with an
echocardiogram. He will also have blood drawn to check his chromosomes to
confirm the diagnosis and make sure he doesn't have a balanced translocation
(which requires consultation with a genetics specialist to discuss the risk of
having another baby with this condition). He will also have a blood screening
test to check for hypothryoidism.
Problems that can occur in the newborn period include difficulty with
feeding and poor growth, especially if he also has a heart problem. He may have
to be on a concentrated, high calorie formula to help him gain weight. His
initial visit during the newborn period will include a detailed evaluation of
his growth and development, with special attention paid to look for eye
abnormalities. It is also a good time to get a referral to a Down Syndrome
specialty clinic or support group if one is available in your area and to an
Early Child Intervention program for occupational and physical therapy.
During the first year of life, routine doctor visits will include the
normal well child examinations and immunizations, but special attention will be
paid to look for thyroid problems (blood tests will usually be done at 12
months), hearing loss or deafness (a referral to an audiologist for formal
testing should be considered if there is any question of hearing loss), eye
abnormalities (a referral to an ophthalmologist at 9 months is usually
indicated), and problems with feeding or growth.
In early childhood (ages 1-5 years), your pediatrician will continue
to monitor your child's growth and development, including yearly testing to look
for thyroid problems, and possibly x-rays of the cervical spine to look for
atlantoaxial instability or subluxation, especially if your child is going to be
active in contact sports or Special Olympics. He should also have an early visit
to a pediatric dentist to monitor for any dental abnormalities.
In late childhood (ages 5-13 years) and adolescence to early
adulthood (ages 13-21 years), your pediatrician will continue to monitor
your child's growth and development, including yearly testing to look for
thyroid problems, regular screening of his vision and hearing, and he may
discuss any learning or behavioral problems your child may be having. In older
children, it may be necessary to discuss vocational planning, or placement in a
group home or workshop.
You should also have discussions about puberty and sexual development with
your older child and the risk of having a child with trisomy 21.Recommended Reading List:
In association with amazon.com, these books can help you to learn more and become better educated about your child's condition, its treatment and preventing complications.- Teaching Reading to Children With DS
- Fine Motor Skills in Children With DS
- Gross Motor Skills in Children With DS
- Count Us in : Growing Up With DS
- My Sister Is Special
- Medical & Surgical Care for Children With DS
- Keys to Parenting a Child With DS
Internet Resources:
- National Association for Down Syndrome: The online resource for the NADS.
- Down Syndrome Health Issues: a very complete web site by a physician with a child with DS. Has articles, health guidelines, controversial topics and lots of links.
Related Links
- Grandma, about the birth of grandson with Down Syndrome
- down
syndrome
- trisomy
21
- mental
retardation
- problems
- find books about down syndrome and trisomy 21
source: http://www.keepkidshealthy.com/
Posted by Kids Are Special in Down Syndrome
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