This clinical report is designed to help the pediatrician in the care of children and adolescents diagnosed with Down Syndrome or families in which it was diagnosed through a chromosomal analysis or suspected through a prenatal examination. Although a pediatrician’s initial contact with the child is usually during infancy, occasionally the pregnant woman who has been given a prenatal diagnosis of Down Syndrome will be referred for review of the condition and genetic counseling; This report also provides guidance for this situation.
Down Syndrome (DS) is the most common chromosomal cause of intellectual disability and there has been a significant improvement in the quality of life of affected people. Awareness of issues important to children, adolescents, and their caregivers can make a big difference throughout life.
Children with DS may have many concurrent medical conditions and cognitive impairment due to the presence of additional genetic material from chromosome 21. The degree of cognitive impairment is variable and may be mild (IQ of 50 to 70), so generally moderate (IQ 35 to 50) or occasionally severe (IQ 20 to 35).
Common medical conditions in children with DS include hearing loss (75%), obstructive sleep apnea (50% to 79%), otitis media (50% to 70%), eye problems (60% to 80%), including cataracts (<1%-3%), nasolacrimal duct obstruction (3%-36%) and strabismus and severe refractive errors (36%-80%), congenital heart defects (50%), neurological dysfunction (1%-13 %), gastrointestinal atresia (12%), hip dislocation and anomalies (2%–8%), symptomatic atlantoaxial instability (1%–2%), thyroid disease (24%–50%), and, less commonly, myelopoiesis transient abnormality (4-10%), leukemia (1%), autoimmune diseases including Hashimoto’s thyroiditis (13-39%), celiac disease (1-5%), Hirschsprung disease (<1%), and autism (7 -19%).
In about 96%, the condition is sporadic due to nonfamilial trisomy 21, in which there are 47 chromosomes with the presence of an additional free chromosome 21. In 3% to 4% of people with the DS phenotype, the extra chromosomal material is the result of an unbalanced translocation between chromosome 21 and another acrocentric chromosome, usually chromosome 14 or 21.
If the child has a translocation, parents should be offered a karyotype to determine whether the translocation is familial or de novo.
In the remaining 1% to 2% a mixture of 2 cell lines is present: 1 normal and the other with trisomy 21. This condition is called mosaicism. People with mosaicism may be more mildly affected than people with complete trisomy 21 or chromosome 21 translocation, but this is not always the case. Formal counseling from a clinical geneticist or genetic counselor is recommended for all families.
Several areas require ongoing evaluation throughout childhood and should be reviewed at each visit and at least annually.
| A. The prenatal visit |
The American College of Obstetricians and Gynecologists (ACOG) recommends that all pregnant women, regardless of age or risk factors, be offered the option of screening and diagnostic testing for DS.
There are a wide variety of screening options in the first and second trimester. Each offers different levels of sensitivity and specificity. In recent years, non-invasive prenatal cell-free DNA (cfDNA) testing has become available and is the most sensitive method for detecting DS. A high-risk cfDNA result would require confirmation by diagnostic testing with chorionic villus biopsy (CVB) or amniocentesis.
Other screening tests for DS include first trimester screening, which incorporates maternal age, nuchal translucency ultrasound, and measurement of maternal serum β-human chorionic gonadotropin and pregnancy-associated plasma protein A.
Ultrasound is an additional screening tool for DS because structural changes, including congenital heart defects, increased nuchal crease, the "double bubble" sign suggesting duodenal atresia, ventriculomegaly, and short long bones, can be identified by prenatal images.
Diagnostic tests for DS include BVC or amniocentesis. The risk of pregnancy loss related to the procedure when performed by experienced professionals is 0.22% for amniocentesis and 0.11% for BVC.
Families may have a lot of questions during any pregnancy and especially when the child will have DS. They may have received advice from a clinical geneticist, maternal-fetal medicine specialist, obstetrician, or developmental specialist. Pediatricians who often have a prior relationship with the family can be the natural source of support and guidance in this context.
When asked, the pediatrician should discuss the following topics with the family:
1. Prenatal laboratory studies and any confirmatory tests that led to the diagnosis. Many families find it important to confirm the diagnosis before they can consider what it will mean for their baby and family.
2. Families often have questions about prognosis and phenotypic manifestations, including the wide range of variability seen in infants and children with DS.
3. Discuss any additional studies performed that may refine the forecast estimate. Consultation with an appropriate subspecialist, such as a pediatric cardiologist or pediatric surgeon, may occur before birth if abnormal findings are detected.
4. Discuss currently available treatments and interventions. Families need to know that they are not alone and that there are supports and services for them after the baby is born.
5. Discuss the extended life expectancy that has increased from 30 years in 1973 to 60 years in 2002. This increase has been the result of better medical care, educational options, and better social adaptation.
6. There are many issues that must be considered by the family that finds out that their child will have DS. In cases of prenatal diagnosis, this may include discussion of whether or not to continue the pregnancy, raising the child in the family, foster care placement, and adoption.
7. The mechanism of onset of DS in the fetus and the possible recurrence rate for the family should be shared, as provided by genetic counseling.
As the pregnancy continues, the pediatrician may:
1. Develop a plan for birth and neonatal care with the obstetrician and family.
2. Offer contact of parent groups and information about local and national organizations, which is often a very useful resource for caregivers’ decision making.
3. Offer referral to a clinical geneticist for further discussion of clinical outcomes and variability, recurrence rates, family planning, and assessment of risks to other family members.
| B. Health monitoring from birth to first month: newborns |
> Exam
The first step is a careful review of family and prenatal history, including:
• Results of prenatal chromosome studies, if performed; and
• Family history of previous children born with trisomy 21 or pregnancies that ended in spontaneous abortion (may indicate that a family may have a translocation that predisposes them to having children with DS).
A physical examination is the most sensitive test in the first 24 hours of life to diagnose trisomy 21 in a baby. If the doctor believes that the criteria for DS are present on physical examination, then a blood sample should be sent for karyotyping.
When delivering a diagnosis of Trisomy 21:
• The mother should be allowed to recover from the immediate postpartum and be with her partner or trusted person when giving the diagnosis;
• The information must be transmitted in a private setting by the doctors involved, and
• It is recommended that hospitals coordinate the delivery of information and offer a private hospital room pending confirmation of the diagnosis.
When providing information about DS to families, the doctor should first congratulate the parents on the birth of their baby. Clinicians should use their experience and knowledge to provide support and guidance to families.
The laboratory diagnosis of DS should be confirmed and the karyotype should be reviewed with the parents when the final result is available. Specific findings should be discussed with both parents whenever possible, including possible clinical manifestations associated with the syndrome. Families should be offered referral to genetic counseling if it was not done before birth.
> Discuss and review
• Hypotonia.
• Facial appearance and recognize the presence of familiar characteristics.
• Cutis marmorata; Explain that this is common in babies with DS and reassure the family about this finding.
> Evaluate for
• Heart defects (∼50% risk). Perform an echocardiogram, to be read by a pediatric cardiologist, regardless of whether a fetal echocardiogram has been performed.
• Feeding problems. Feeding difficulties, including gastroesophageal reflux and dysphagia, are extremely common (31% to 80% in DS). Hypotonia, relative macroglossia with a relatively small oral cavity, decreased jaw strength, and poor tongue control contribute to the problems. Up to 90% of DS patients who aspirate do so silently, without cough or obvious symptoms. Infants who (1) have marked hypotonia, (2) are underweight, (3) feed slowly, (4) choke on food, (5) have recurrent or persistent respiratory symptoms, or (6) desaturate on food should be referred immediately for specialized evaluation or a possible video swallowing study. If left untreated, aspiration is an overlooked cause of recurrent respiratory symptoms. Babies with DS can be breastfed successfully, but some may need early support until a successful breastfeeding pattern is established.
• Cataracts through red reflex. Cataracts can progress slowly and, if detected, require immediate evaluation and treatment by an experienced ophthalmologist. The surgical results in these cases are reassuring.
• Congenital hearing loss, with tests such as auditory evoked potentials or otoacoustic emissions. If the baby did not pass newborn screening, consult an otolaryngologist to determine if there is an abnormality in the middle ear. Refer within 48 hours of confirmation that the baby is deaf or hard of hearing.
• Duodenal atresia or anorectal atresia/stenosis by obtaining a history and performing a clinical examination.
• Assessment for apnea, bradycardia, or desaturation should be performed with the infant in a car seat. This review should be performed before hospital discharge.
• Constipation. If constipation is present, evaluate for restriction of diet or fluid intake, hypotonia, hypothyroidism, or malformation of the gastrointestinal tract, including stricture or Hirschsprung’s disease, for which there is an increased risk.
• Gastroesophageal reflux, which is usually diagnosed and treated clinically. If it contributes to cardiorespiratory problems or growth failure, refer to a subspecialist.
• Stridor, wheezing or noisy breathing.
• Hematological abnormalities. Obtain a complete blood count with differential at 3 days of age to evaluate for transient abnormal myelopoiesis (TAM), polycythemia, and other hematologic abnormalities. Leukocytosis or TAM is relatively common in this population (9%) and may present with pericardial and pleural effusions, but may be asymptomatic without hepatosplenomegaly, jaundice, or rash. Numerous hematologic abnormalities such as neutrophilia (80%), thrombocytopenia (66%), and thrombocytosis are frequently reported and generally resolve within the first week of life, while macrocytosis is also common. but often it is not resolved. Infants with abnormalities that persist after the first week of life should be referred to a hematologist.
• Caregivers of babies with TMA should be counseled about the risk of leukemia and be aware of signs, which include easy bruising, recurrent fever, bone pain, easy bruising or bleeding, petechiae, onset of lethargy, or changes in feeding patterns.
• Polycythemia. It is common in the first week of life in DS (33%) and can persist for several months.
• Congenital hypothyroidism (2-7% risk). Get TSH; congenital hypothyroidism may be missed if only T4 is measured in newborn screening. Many children with DS (25% to 60%) have mildly elevated TSH and normal free T4 concentrations. Management of children with abnormal TSH or T4 concentrations should be discussed with a pediatric endocrinologist.
> Anticipatory guidance provided between birth and one month of age
• Discuss the child’s strengths and positive family experiences.
• Talk about how and what to tell your siblings, other family members, and friends.
• Discuss the effectiveness of early intervention. Initiate referral for speech, fine motor, or gross motor therapies unless medically contraindicated.
• Discuss increased susceptibility to respiratory tract infections.
• Children with conditions such as congenital heart disease, airway problems, or prematurity (born <29 weeks gestation) may be considered for respiratory syncytial virus prophylaxis.
• Using the previously obtained karyotype, review the possibility of recurrence in subsequent pregnancies and the availability of prenatal testing options, as discussed above.
| C. Health Supervision From 1 Month to 1 Year: Childhood |
> Physical examination and laboratory studies
• Obtain a history and perform a physical examination.
• Monitor weight at every health care visit. Review the baby’s growth and record it in the specific weight, length, weight and length, and head circumference tables for DS.
• Review feeding at each health monitoring visit, ensure adequate iron intake, and ask about any changes in breathing during feeding.
• Review the previous hearing evaluation (evoked potentials / otoacoustic emissions). If the baby passed the newborn screening, she will be retested at 6 months of age to confirm.
• The risk of otitis media with effusion is 50% to 75%. Middle ear disease should be treated immediately when diagnosed.
• In children with stenotic canals in which the tympanic membranes cannot be seen, refer to an otolaryngologist as soon as possible for examination.
• Ear abnormalities also put a child at risk for sensorineural hearing loss and vestibular problems that can affect balance, making thorough audiologic evaluation even more important.
• Within the first 6 months of life, refer to a pediatric ophthalmologist to evaluate strabismus, cataracts, nasolacrimal duct obstruction, refractive errors, glaucoma, and nystagmus.
• Check the baby’s vision at each visit.
• Repeat TSH measurement at 6 and 12 months of age and annually thereafter.
• Monitor babies with heart defects at all well-child visits. Tachypnea, feeding difficulties, and poor weight gain may indicate heart failure. Infants and children with DS also have an increased risk of pulmonary hypertension even in the absence of cardiac structural defects.
• Anemia/iron deficiency: Obtain a complete blood count with differential and (1) a combination of ferritin and C-reactive protein (CRP), or (2) a combination of serum iron and total iron-binding capacity (TIBC), starting at one year of age and annually thereafter.
Children with DS have been shown to have a similar risk of iron deficiency anemia as the general population, but this may be overlooked due to macrocytosis. Iron insufficiency may precede iron deficiency anemia and may also have long-term neurological effects. Serum ferritin concentration is an acute phase reactant and is not useful if inflammation is present or CRP is elevated: further evaluation with iron concentration and TIBC may be necessary to confirm the diagnosis.
• Although not unique to children with DS, low ferritin is also associated with sleep problems, and iron deficiency may be considered in the differentials for children with sleep difficulties. The doctor may prescribe iron supplements for children with sleep problems and a ferritin concentration <50 μg/L.
• Pediatricians should be alert to the signs and symptoms of leukemia discussed above.
• Perform a complete neurological examination and consult with neurology as necessary to detect signs of neurological dysfunction. Children with DS are at increased risk for seizures and other conditions.
• Give immunizations, including influenza vaccine and other recommended vaccines, to all children unless there are specific contraindications.
• Evaluate dermatologic findings and advise parents that xerosis (dry skin) and cutis marmorata are common.
• At least once during the first 6 months of life, discuss with the family the symptoms of obstructive sleep apnea, including heavy breathing, snoring, unusual sleeping positions, frequent night awakenings, daytime sleepiness, apneic pauses, and problems of behavior.
• At each well-child visit, discuss with parents the importance of maintaining the cervical spine in a neutral position during any anesthetic, surgical, or radiographic procedure to minimize the risk of spinal cord injury, and review signs and symptoms of myelopathy. , which include asymmetry. of movement, weakness, and, on examination, increased deep tendon reflexes.
| D. Health Supervision From 1 to 5 Years: Early Childhood |
• Obtain a medical history and perform a physical examination.
• Monitor weight and follow weight-for-height trends at each visit. Review the baby’s growth and record it in the specific tables of weight, height, weight for height in SD, BMI for age and head circumference.
• Ask about changes in diet or any respiratory symptoms with diet and ensure adequate iron intake.
• Anemia/iron deficiency: Obtain a complete blood count with differential and (1) a combination of ferritin and CRP, or (2) a combination of serum iron and TIBC, beginning at 1 year of age and annually thereafter.
Remember that low ferritin is also associated with sleep problems, particularly restless legs syndrome. In these cases, iron supplements with a ferritin concentration <50 μg/L may be prescribed.
• Solid tumors: Compared with the general population, the overall risk of solid tumors is not increased in DS. Importantly, testicular cancer is the only solid tumor that is more common in DS. Doctors should palpate the testicles during routine health exams to detect any changes.
• Review the risk of hearing loss associated with otitis media with effusion.
– For a child who passed initial hearing screening, a behavioral audiogram and tympanometry should be performed every 6 months until bilateral normal hearing levels are established by specific testing (usually after 4 years of age).
– Subsequently, behavioral hearing tests should be performed annually.
– Children who demonstrate hearing loss should be referred to an otolaryngologist. The risk of otitis media with effusion between 3 and 5 years of age is ∼50% to 70%.
– Talk to parents and/or caregivers about the importance of optimal hearing for speech development and learning.
• Check the child’s vision and use appropriate objective and subjective criteria. Refer the child to a pediatric ophthalmologist or an ophthalmologist with special knowledge and experience with children with disabilities. Children with DS have a 50% risk of refractive errors leading to amblyopia between 3 and 5 years of age. Addressing refractive errors and strabismus at an early age can help prevent amblyopia and encourage normal visual development.
• Atlantoaxial instability: Discuss with parents, at least every two years, the importance of cervical spine positioning precautions to protect the cervical spine during any anesthetic, surgical, or radiographic procedure. Instruct parents to contact their doctor in case of new onset of symptoms of changes in gait or use of arms or hands, changes in bowel or bladder function, pain in neck, neck stiffness, head tilt, torticollis, how the child positions his or her head, change in overall function or weakness.
> The child without symptoms of atlantoaxial instability
• Children with DS have a slightly increased risk of symptomatic atlantoaxial subluxation. However, the child <3 years of age does not have adequate vertebral mineralization and epiphyseal development for accurate radiographic evaluation of the cervical spine. Current evidence does not support routine screening radiographs to evaluate possible atlantoaxial instability in asymptomatic children.
> The child with symptoms of possible atlantoaxial instability
• Any child who has significant neck pain, radicular pain, weakness, spasticity or change in tone, difficulty walking, hyperreflexia, change in bowel or bladder function, or other signs or symptoms of myelopathy should undergo a plain x-ray of the cervical spine in a neutral position. If there are significant radiographic abnormalities in the neutral position, the patient should be referred as soon as possible to a pediatric neurosurgeon or pediatric orthopedic surgeon.
• Discuss with caregivers that all children, with or without DS, should avoid using the trampoline. Parents can be warned that participation in contact sports puts children at risk for spinal cord injury.
• Measure TSH annually or sooner if the child has symptoms that could be related to thyroid dysfunction. Measure TSH every 6 months if antithyroid antibodies were previously detected.
• For children on a gluten-containing diet, review symptoms potentially related to celiac disease at each visit because children with DS are at increased risk. These symptoms include prolonged diarrhea or constipation, slow growth, unexplained failure to thrive, anemia, abdominal pain or bloating, or refractory behavioral or developmental problems. For those with symptoms, obtain a tissue transglutaminase immunoglobulin A (TTG IgA) concentration and a simultaneous quantitative IgA. Quantitative IgA is important, because an IgA deficiency makes TTG IgA unreliable. Refer patients with abnormal laboratory values for specialized evaluation.
• Discuss symptoms of sleep-disordered breathing. There is little correlation between negative parent report of symptoms and polysomnography results. Therefore, polysomnography is recommended for all children with DS between the ages of 3 and 4 years.
• Discuss obesity as a risk factor for sleep apnea.
• Recognize that sleep disturbance is extremely distressing for families (remember that low ferritin is also associated with sleep problems, and iron deficiency may be considered in the differential diagnosis of children with sleep difficulties).
• Remind the family to follow up with a pediatric cardiologist in patients with cardiac injuries, even those with complete repair, to monitor for recurrent/residual injuries as well as the possible development of pulmonary hypertension.
• Talk to parents and/or caregivers at each visit about the child’s social and behavioral progress. Refer children who may have autism spectrum disorder, attention-deficit/hyperactivity disorder, or other psychiatric or behavioral problems.
• The diagnosis of autism spectrum disorder in children with DS is often delayed, because the presentation may be subtly different from that of children with idiopathic autism spectrum disorder. The pediatrician should screen all children with DS for autism, as they would other children, between 18 and 24 months of age, and refer those with a concerning evaluation for specialized evaluation. Referral as soon as autism is suspected is essential, because early treatment is important in all children with autism spectrum disorder, including those with DS.
• Inquire about symptoms of neurological dysfunction, including seizures, and perform a neurological examination. Pediatricians should be aware of symptoms called "acute regression in DS," "catatonia," or "disintegrative disorder" that occur in late childhood, adolescence, or early adulthood. Patients who experience loss of abilities, marked mood changes or catatonia, or who develop repetitive thoughts or behaviors that interfere with normal life activities, should be referred to a specialist.
• Skin problems are particularly common in patients with DS. Xerosis (very dry skin) or thinning hair may be a sign of hypothyroidism and warrant an interim TSH. Be alert to dermatological problems that may have an autoimmune etiology and are common among children with DS, such as alopecia areata and vitiligo. Evaluate skin findings, discuss with patient and family, and consider referral to a dermatologist if necessary.
> Early Guidance From 1 to 5 Years
• Review early intervention, including physical therapy, occupational therapy, and speech therapy, at all visits.
• Review the availability of resources, including support groups and organizations for DS.
• Provide the flu vaccine annually. Children with chronic heart or lung disease should receive the 23-valent pneumococcal polysaccharide vaccine at 2 years of age or older.
• Report that delayed and irregular tooth eruption patterns are common and that agenesis occurs more frequently (23%).
• Encourage the use of precise terms for the genitals and other private body parts (penis, vulva) whenever these body parts are analyzed or examined, reminding patients that their body is theirs and explaining what you will do before passing to your personal space or perform a procedure. Remind the patient and family that the only reason anyone should look at or touch private parts of the body is for health reasons (visits to the doctor’s office) or hygiene (bathing or showering).
• At at least one well-child visit, educate the family about the increased risk of sexual exploitation and remind them that people their children know and trust are more likely to be perpetrators than strangers.
• At least once between 1 and 5 years of age, discuss the parents’ future pregnancy planning and review the possibility of DS recurrence and the availability of prenatal testing options.
• Assess the child’s behavior and discuss behavior management, socialization, and recreational skills.
• Encourage families to establish optimal dietary and physical exercise patterns that prevent obesity.
| E. Health Supervision from 5 to 12 Years: Late Childhood |
• Obtain a history and perform a physical examination.
• Check weight at each visit. Review the child’s growth and record it in the specific charts for DS. These tables should be used in conjunction with the SD-specific BMI table.
• Check the diet. Ask about any respiratory symptoms with diet and ensure adequate iron intake.
• Emphasize a healthy diet and lifestyle to prevent obesity.
• Get an annual audiological evaluation.
• Get an eye evaluation every 2 years.
• Measure TSH annually. Measure TSH every 6 months if antithyroid antibodies have been detected.
• Individualize cardiological follow-up based on history of cardiac anomalies.
• Obtain a complete blood count and (1) a combination of ferritin and CRP, or (2) a combination of serum iron and TIBC, beginning at 1 year of age and annually thereafter.
• May prescribe iron supplements for children with sleep problems and a ferritin concentration <50 μg/L.
• Palpate the testicles at every health exam.
• For children on a gluten-containing diet, review symptoms potentially related to celiac disease at each health check.
• At each well-child visit, discuss with the family the importance of universal precautions for protecting the cervical spine during any anesthetic, surgical, or radiographic procedure. Caregivers should also be instructed to contact their doctor immediately in the event of a new onset of myelopathy symptoms.
• Discuss skin, hair and scalp care at each visit and refer to a dermatologist if necessary.
• Encourage caregivers to promote self-help skills and assume appropriate responsibilities at home. Monitor for behavioral problems that interfere with home, community, or school dynamics. Attention problems, attention deficit/hyperactivity disorder, obsessive-compulsive behaviors, noncompliance behavior, and distractibility are some of the common behavioral problems reported. When symptoms interfere with daily activities, refer to community programs, psychosocial services, or behavioral specialists.
• Keep in mind that children with DS are often more sensitive to certain medications. Experience has led to the recommendation to start medications at the lowest recommended dose and increase or decrease the dose according to the child’s response.
• Inquire about symptoms of neurological dysfunction, including seizures, and perform a neurological examination.
• Discuss symptoms related to sleep-disordered breathing at each well-child visit, remembering to discuss obesity as a risk factor for sleep apnea and review the need to implement a healthy diet and activity in affected patients.
> Anticipatory guidance for ages 5 to 12 at each health exam
• Review the child’s development and appropriateness of the transition to primary school.
• Discuss socialization, family status, and relationships, including financial issues, health insurance, and guardianship.
• Encourage the development of age-appropriate social skills, self-help skills and the development of a sense of responsibility.
• Advise families about the transition from elementary to secondary school. Prepare them to facilitate adjustment at a time when academic disparity becomes greater and full inclusion becomes more difficult.
• Refer patients with autism-related behavior or history for appropriate evaluation.
• Continue to assess, monitor and encourage independence with hygiene and self-care. Encourage the family to teach and respect privacy at home and in the community. Discuss the appropriate management of sexual behaviors such as masturbation.
• Discuss the progression of physical and psychosocial changes throughout puberty and issues of fertility and contraception. Remind the family that pubertal development generally follows similar patterns to those found in the general population, but the child with DS will likely need more preparation to understand and manage these changes.
• Discuss the need for gynecological care in the pubertal girl. When appropriate, in at least one visit talk to the patient and her family about the possibility of DS in her children (50%) if she were to become pregnant.
• Although men with DS are usually infertile, there have been rare cases in which a man has procreated.
• When appropriate, discuss birth control and prevention of sexually transmitted infections with patients and their families.
• At least once between 5 and 12 years of age, as with the discussion in the first year of life, discuss the parents’ future pregnancy planning and review the possibility of risk of recurrence of DS, as well as the availability of prenatal testing options. Offer referrals for genetic counseling if the family desires.
| F. Health Supervision from 12 to 21 years or older: from adolescence to early adulthood |
> Physical examination and laboratory values
• Obtain a history and perform a physical examination.
• Monitor weight and track BMI at each visit. Review the adolescent/young adult’s weight and height and record it in the DS-specific tables. Provide advice on a healthy diet and structured exercise program.
• Review diet, ask if there have been any changes in eating patterns or respiratory symptoms with diet, and ensure adequate iron intake.
• Emphasize a healthy diet and lifestyle to prevent obesity.
• Obtain a complete blood count with differential and (1) a combination of ferritin and CRP, or (2) a combination of serum iron and TIBC.
• You may choose to prescribe iron supplements for adolescents/young adults with sleep difficulties and a ferritin concentration <50 μg/L for children or 75 for adults.
• Palpate the testicles at every health exam.
• Measure TSH level annually or sooner if symptoms of thyroid dysfunction are present. Measure TSH every 6 months if antithyroid antibodies have been detected.
• Get an annual audiological evaluation.
• For adolescents/young adults on a gluten-containing diet, review symptoms potentially related to celiac disease at each visit.
• Individualize cardiological follow-up based on history of cardiac anomalies.
• Discuss symptoms related to sleep-disordered breathing, including snoring, restless sleep, daytime sleepiness, night waking, behavioral problems, and sleeping position, at each visit. Mention the risk factor of obesity for sleep apnea and advise on a healthy diet and physical activity if necessary.
• Discuss at each health examination the importance of cervical spine positioning precautions to protect the cervical spine during any anesthetic, surgical, or radiographic procedure. Perform a careful history and physical examination with attention to myelopathic signs and symptoms.
• Inquire about symptoms of neurological dysfunction, including seizures, and perform a neurological examination.
• Discuss behavioral and social status and refer patients who have depression, chronic behavioral problems, or acute impairment of cognitive function for specialized evaluation and intervention.
• Inquire about symptoms of acute regression.
• Discuss skin, hair and scalp care at each visit and consider referral to a dermatologist if necessary. Inflammatory disorders such as hidradenitis suppurativa may occur at an older age.
• Make sure the adolescent/young adult is under the care of a pediatric ophthalmologist or an ophthalmologist with experience caring for people with disabilities. It is important to evaluate for cataracts, refractive errors, and keratoconus, which can cause blurred vision, corneal thinning, or corneal cloudiness.
• Annually screen acquired aortic and mitral valve disease in older patients with DS. An echocardiogram should be obtained if there is a history of increasing fatigue, shortness of breath, dyspnea on exertion, or a new murmur or gallop rhythm.
• Refer patients with behavior or history related to autism spectrum disorder for appropriate evaluation and therapy.
> Advance guidance for ages 12 to 21 and older at each health exam
• Issues related to the transition to adulthood, including educational goals, work, independence, and health care transition. Potential morbidities in adults can also be discussed, including the apparent trend toward premature aging and increased risk of Alzheimer’s disease.
• Continue to assess, monitor and encourage independence with hygiene and self-care. Provide guidance on healthy sexual development and behaviors. Provide education and guidance on normal masturbation behaviors and personal boundaries. Emphasize the need for understandable information and encourage opportunities to advance understanding of sexuality. Advocate and offer the use of long-acting reversible contraceptives to assist the patient and her family in decision making.
• Make recommendations and provide or refer for routine gynecological care. Discuss premenstrual behavioral problems and menstruation management.
• At least in one visit, talk to the patient and her family about the possibility that she could have a child with DS if she becomes pregnant.
• Discuss independent living opportunities, group homes, post-secondary education options, workshops, and other community-supported employment.
• Analyze intrafamily relationships and financial planning.
• Facilitate the transition and provide coordination to primary medical care for adults.
| G. Future considerations |
Many issues related to the development and health of people with Down Syndrome remain to be evaluated, and research agendas have been developed to address both public health and basic science issues. Knowledge on several topics of great importance for the care of children with DS could be improved through population-based research.
For example, a rigorous evidence-based review of the detection and treatment of atlantoaxial instability is needed, and continued research is essential to direct attention toward optimal outcomes for people with DS.
