​Kembara Xtra - Medicine - Down Syndrome

​Kembara Xtra - Medicine - Down Syndrome 
Introduction 

Down syndrome (DS) is a congenital disorder linked to intellectual incapacity and a higher risk of developing multisystemic health issues.

Alternative: trisomy 21
Child Safety Considerations
There may not be a murmur at birth.

Aspects of Geriatrics
The average lifespan has increased to about 60 years.
Pregnant women's issues
All women should be offered conventional prenatal screening and diagnostic testing for DS, according to the American College of Obstetricians and Gynecologists (ACOG), the Society for Maternal-Fetal Medicine (SMFM), and the American College of Medical Genetics and Genomics (ACMG).
All women are free to select noninvasive prenatal screening (NIPS), according to ACOG and the SMFM. All women should be offered NIPS, according to ACMG (1),(2).
EPIDEMIOLOGY
Incidence
5,300 births a year, or 1/792 live births, are recorded in the United States. prevalence in the United States: 212,000 people


Pathophysiology and Etiology 

Etiology: existence of a chromosome 21 extra in whole or in part
Trisomy 21: In 95% of cases of DS, an extra copy of chromosome 21 is discovered in every cell as a result of nondisjunction, typically during maternal meiosis.

 Translocation DS: In 3-4% of cases of DS, excess material from chromosome 21q is moved to another chromosome (often 13, 14, or 21); 25% of cases are of parental origin.
Mosaic trisomy 21: 1-2% of DS; milder symptoms possible.

Genetics: OMIM 190685 (Online Mendelian Inheritance in Man).
Trisomy 21 is most frequently inherited as sporadic nondisjunction, and after conceiving a child with nondisjunction trisomy, there is a 1% chance (or age risk, whichever is larger) of having another child with Down syndrome. chromosome 21 - 100% if the parental balanced translocation is 21;21 (45,t[21;21]) for fathers/brothers and chromosome 21 - 10-15% for mothers/sisters. - Unknown after child with mosaic Down syndrome, although 1%

Risk factors include: Live birth prevalence may vary based on differing elective termination rates Chance of having an infant with DS increases with mother's age. DS believed to occur in all races and ethnicities with equal frequency.

Prevention

There are several options for pregnant parents who do not want to raise a child with DS, including adoption, prenatal diagnosis followed by termination, and preimplantation diagnosis with in vitro fertilization (IVF).

Accompanying Conditions 

Congenital heart abnormalities in the cardiac system (40–50%)
Growth and GI
- Feeding issues are frequent in young children.
- Structural flaws (12% or less)
- Gastric reflux disease
- Diarrhea
- Celiac illness (5%)
Tracheal stenosis and tracheoesophageal fistula in the lungs
Thoracic hypertension
- Sleep apnea that is obstructed (50–75%)
Genitourinary - Cryptorchidism, hypospadias - Hematologic/neoplastic - Transient myeloproliferative disorder (10%): usually resolves on its own; can be preleukemic (acute megakaryoblastic leukemia [AMKL]) in 20-30% - Leukemia (AMKL or acute lymphoblastic leukemia [ALL]) in 0.5-1% - Decrease 
Endocrine - Congenital or acquired hypothyroidism (13-63%)
Skeletal - Atlantoaxial instability (15%): 2% symptomatic - Diabetes
Short stature is prevalent.
- Scoliosis (Adult onset in certain cases.)
Hip issues (1-4%)
Immune/rheumatologic - Abnormal immune function with an increase in respiratory infections - Increased risk of autoimmune illnesses, such as alopecia and Hashimoto thyroiditis 
Neurologic - Intellect impairment ranging from slight to severe.
Moderate intellectual disability is average.
Autism spectrum disorder (about 18%)
Hypotonia - Seizures (8%), usually occurring in people over 30 or in those under 1 year old (infantile spasms). - Alzheimer's disease: The percentage rises with age; at least 40% of people by the age of 40 show signs of dementia.
Psychiatric - Children are now more likely to experience attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), and autism spectrum disorder.
- An increasing prevalence of generalized anxiety and sadness in adolescents and adults A extremely unusual clinical regression condition called Down syndrome disintegrative disease can strike teenagers or young adults.

Due to the high prevalence of middle ear effusions that are asymptomatic, hearing loss (75%) that is primarily conductive and otitis media (50–70%) - Strabismus (refractive errors, 15%), myopia, hyperopia, nystagmus, cataracts (15%), and visual impairment (60%) 
Dermatologic conditions include hidradenitis suppurativa, onychomycosis, syringomas, furunculosis/folliculitis, xerosis, eczema, palmoplantar hyperkeratosis, and atopic or seborrheic dermatitis.
DIAGNOSIS HISTORY
85% of mothers of infants with DS are informed of the diagnosis postnatally, though this is changing as more prenatal screening programs, like NIPS, become available.

clinical assessment 
DS-specific growth charts were published in November 2015. The 50% BMI on the DS-specific growth curves corresponds to the 85% (overweight) on the typical NCHS growth curves, indicating that these charts do not represent "optimal" growth for children with DS.

Children and infants - Brachycephaly (100%)
(80%) Hypotonia
- Simplified and frequently low-set little ears - Upslanting palpebral fissure (90%)
- Folds of the epicanthic (90%)
expanded space between the first and second toes, brushfield patches, a depressed nasal bridge, a short neck, frequently with expanded nuchal folds, a single palmar crease, and a single flexion crease on the fifth finger, as well as clinodactyly and brachydactyly on the fifth digit 

Initial test results from the laboratory and imaging
The following are some examples of maternal prenatal screening: - First trimester: combined screening for nuchal translucency, pregnancy-associated plasma protein A (PAPP-A), maternal age, and human chorionic gonadotropin (hCG). - Sequential screening (combined screen in first trimester, if abnormal, obtain amniocentesis or await second trimester quad screening) - Second trimester: quad screen (-fetoprotein, -hCG, estriol, and inhibin A) - Integrated screen (first trimester combined screening with second trimester quad screen). - NIPS using cell-free DNA starting at around 10 weeks of gestation
the following are included in prenatal diagnosis: - First trimester chorionic villus sampling: 99% correct, 1% miscarriage - Amniocentesis: 99% accurate, 0.25 percent miscarriage rate in the second trimester
Fluorescence in situ hybridization (FISH) can be used for postnatal diagnosis at the time of clinical suspicion, however karyotyping is usually recommended to determine the genetic type of Down syndrome.
- Only if a translocation DS is discovered in a kid, is the parental (and adult-aged sibling) karyotype indicated.

 Preparation for infants
- Echo, whether murmuring or not
- CBC with differential (to check for temporary myeloproliferative disease) hormones that stimulate the thyroid (TSH)
- An audiogram - An eye exam (pay attention to the red reflex)
- Swallowing research for people who have trouble eating - Car-seat test

Tests in the Future & Special Considerations
The doctor should provide "Understanding a Down Syndrome Diagnosis" (http://understandingdownsyndrome.org) after making a prenatal diagnosis.
If the diagnosis is postnatal, a doctor (ideally the obstetrician and pediatrician or family physician) should promptly inform the mother and her partner of the diagnosis based on clinical observations and before the karyotype is available, but with consideration for extenuating circumstances (such as the mother's medical condition). Unless doing so would cause an unnecessarily long delay, the infant and spouse should be present. It should be a private meeting. Give the infant a name.
The clinician should be educated about developmental disabilities (DS) in the postnatal context and lead a discussion with content that is current, respectful, balanced, educational, and realistic but not unduly pessimistic, focusing on what is pertinent to the first year of life.
As suggested, follow-up on the heart

Early intervention programs for infants; lactation consultants; physical, occupational, and speech therapy; and, if necessary, pediatric cardiologists 

Surgical Techniques 
Congenital malformations should be fixed.

Healthcare Alternatives 
Supplement use in children with DS is not supported by any research, and craniosacral manipulation is risky due to the possibility of atlantoaxial instability.


Admission

Consider the National Down Syndrome Adoption Network (NDSAN) national registry of families looking to adopt a child with DS if the social context supports adoption (http://www.ndsan.org/).

Patient Follow-Up Monitoring
The American Academy of Pediatrics suggests continual evaluation and revision of the following surveillance, at least once a year: - Vision: Have your eyes checked by an ophthalmologist every six months, every year between the ages of one and five, every two years between the ages of five and thirteen, and every three years between the ages of thirteen and twenty-one.
- Hearing: newborn screening with otoacoustic emissions (OAE) or auditory brainstem response (ABR), then audiograms every six months until age three, then annually. - Initial infant thyroid screening. TSH should be repeated after six, twelve, and then one year.
- Annual celiac disease screening (total IgA and tissue transglutaminase [tTG]-IgA), if symptoms exist - Hemoglobin every year to check for iron deficiency anemia - Three-view cervical spine films if the patient is symptomatic starting between the ages of 3 and 5 -
- If a teen's echocardiography shows a murmur or tiredness, repeat it.
– The adherence to recommendations that last the child's entire life can be improved by integrating particular DS care components into the electronic health record.

Adults with DS should receive comprehensive medical care as well.


No specific diet is required, but adults and adolescents with DS have fewer caloric needs than their counterparts.
Obesity affects people of all ages.

Prognosis Almost all young adults and adults with DS say they are content with their life.
60 years life expectancy

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