1000-2000 5 ьшò

TREATMENT

Treatment includes initial diagnosis; ongoing medical care; emotional support, counseling, and patient education regarding the DV cycle; referrals to community and supportive services as needed

On diagnosis, use the SOS-DoC intervention:

–S: Offer Support and assess Safety:

Support: “You are not to blame. I am sorry this is happening to you. There is no excuse for DV.”

Remind patient of your commitment to confidential communication.

Safety: Listen and respond to safety issues for the patient: “Do you feel safe going home?”; “Are your children safe?”

–O: Discuss Options, including safety planning and follow-up:

Provide information about DV and help when needed. Make referrals to local resources:

■“Do you need or want to access a safety shelter or DV service agency?”

■“Do you want police intervention and if so, would you like me to call the police so they can make a report with you?”

■Offer numbers to local resources and National DV Hotline: 1-800-799- SAFE (open 24/7; can provide physicians in every state with information on local resources).

–S: Validate patient’s Strengths:

“It took courage for you to talk with me today. You have shown great strength in very difficult circumstances.”

–Do: Document observations, assessment, and plans: Use patient’s own words regarding injury and abuse. Legibly document injuries: Use a body map.

If possible, take instant photographs of patient’s injuries if given patient consent.

Make patient safety plan. Prepare patient to get away in an emergency:

■Encourage patient to keep the following items in a safe place: keys (house and car); important papers (Social Security card, birth certificates, photo ID/driver’s license, passport, green card); cash, food stamps, credit cards; medication for self and children; children’s immunization records; important phone numbers/addresses (friends, family, local shelters); personal care items (e.g., extra glasses).

■Encourage patient to arrange a signal with someone to let that person

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know when she or he needs help.

–C: Offer Continuity:

Offer a follow-up appointment and assess barriers to access.

GENERALMEASURES

Reporting child and elder abuse to protective services is mandatory in most states. Several states have laws requiring mandatory reporting of IPV.

Contact the local DV program to find out about laws and community resources before they are needed.

Display resource materials (National DV Hotline: 1-800-799-SAFE) in the office, all exam rooms, and restrooms.

ADDITIONALTHERAPIES

National DV Hotline: 1-800-799-SAFE (7233)

Post in all exam rooms posters in both English and Spanish; available at http://www.thehotline.org/resources/download-materials/

ONGOING CARE

FOLLOW-UPRECOMMENDATIONS

Schedule prompt follow-up appointment.

Inquire about what has happened since last visit.

Review medical records and ask about past episodes to convey concern for the patient and a willingness to address this health issue openly.

DV often requires multiple interventions over time before it is resolved.

PATIENT EDUCATION

Counsel patients about nonviolent ways to resolve conflict.

Educate patients about the cycle of violence.

Counsel parents about developmentally appropriate ways to discipline their children.

Educate parents about the negative consequences of arguments on children and each other.

National Coalition Against Domestic Violence: http://www.ncadv.org/

CDC: http://www.cdc.gov/violenceprevention/

PROGNOSIS

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Most DVperpetrators do not voluntarily seek therapy unless pressured by partners or on legal mandate. Current evidence is insufficient on effectiveness of therapy for perpetrators.

REFERENCES

1.U.S. Preventive Services Task Force. Intimate Partner Violence and Abuse of Elderly and Vulnerable Adults: Screening. Rockville, MD: Agency for Healthcare Research and Quality; 2013.

2.Sumner SA, Mercy JA, Dahlberg LL, et al. Violence in the United States: status, challenges, and opportunities. JAMA. 2015;314(5):478–488.

ADDITIONALREADING

Hamberger LK, Rhodes K, Brown J. Screening and intervention for intimate partner violence in healthcare settings: creating sustainable system-level programs. J Womens Health (Larchmt). 2015;24(1):86–91.

Hegarty K, O’Doherty L, Taft A, et al. Screening and counselling in the primary care setting for women who have experienced intimate partner violence (WEAVE): a cluster randomised controlled trial. Lancet.

2013;382(9888):249–258.

Lachs MS, Pillemer KA. Elder abuse. N Engl J Med. 2015;373(20):1947– 1956.

CODES

ICD10

T74.91XAUnspecified adult maltreatment, confirmed, initial encounter

T74.11XAAdult physical abuse, confirmed, initial encounter T74.31XAAdult psychological abuse, confirmed, initial encounter

CLINICALPEARLS

Display resource materials in the office (e.g., posting abuse awareness posters/National DV Hotline, 1-800-799-SAFE, in both English and Spanish, in all exam rooms and restrooms).

Given the high prevalence of DV and the lack of harm and potential benefits

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of screening, routine screening is recommended.

For those who screened positive, offer resources, reassure confidentiality, and provide close follow-up.

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DOWN SYNDROME

Michele Roberts, MD, PhD Brian G. Skotko, MD, MPP

BASICS

DESCRIPTION

Down syndrome (DS) is a congenital condition associated with intellectual disability and an increased risk of multisystem medical problems.

System(s) affected: neurologic (100%), cardiac (40–50%), GI (8–12%)

Synonym(s): trisomy 21

Pediatric Considerations

Murmur may not be present at birth. Delay in recognition of heart condition may lead to irreversible pulmonary hypertension.

Geriatric Considerations

Life expectancy has increased to ~60 years.

Age-related health issues occur at earlier age than in the general population.

Communication difficulties may interfere with prompt recognition of some medical issues.

Pregnancy Considerations

American College of Obstetricians and Gynecologists (ACOG) recommends all pregnant women be offered traditional prenatal screening and diagnostic testing for DS.

–Maternal prenatal screening may be performed in the 1st or 2nd trimester.

–Prenatal diagnostic tests include chorionic villus sampling or

amniocentesis.

ACOG and the Society for Maternal-Fetal Medicine (SMFM) acknowledge that any women may choose noninvasive prenatal screening (NIPS), although conventional screening tests might be more appropriate. American College of Medical Genetics and Genomics (ACMG) recommends all women be offered NIPS (1,2).

Most, but not all, men with DS are believed to be infertile.

Most women with DS are subfertile but can conceive children with and without DS.

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EPIDEMIOLOGY

Incidence

In the United States, 1 per 792 live births, ~5,300 births/year (3)

Prevalence

~206,000 persons in the United States (4)

ETIOLOGYAND PATHOPHYSIOLOGY

Etiology: presence of all or part of an extra chromosome 21

Trisomy 21: 95% of DS, an extra chromosome 21 is found in all cells due to nondisjunction, usually in maternal meiosis.

Translocation DS: 3–4% of DS, extra chromosome 21q material is translocated to another chromosome (usually 13, 14, or 21); ~25% have parental origin.

Mosaic trisomy 21: 1–2% of DS, manifestations may be milder.

Genetics

Online Mendelian Inheritance in Man (OMIM) 190685

Inheritance: most commonly sporadic nondisjunction resulting in trisomy 21 Chance of having another child with DS is

–1% (or age risk, whichever is greater) after conceiving a pregnancy with nondisjunction trisomy 21

–10–15% for mothers/sisters and 3–5% for fathers/brothers who carry balanced translocation with chromosome 21

–100% if the parental balanced translocation is 21:21 (45,t[21:21])

–Unclear after child with mosaic DS but ~1%

RISK FACTORS

DS believed to occur in all races and ethnicities with equal frequency

Chance of having an infant with DS increases with mother’s age.

Relatively more infants with DS are born to younger mothers because younger women are more likely to become pregnant.

Prenatal diagnosis of DS is more common in older women, and a high percentage of such pregnancies are electively terminated.

GENERALPREVENTION

No prevention for nondisjunction trisomy 21

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Preimplantation diagnosis with in vitro fertilization (IVF), prenatal diagnosis followed by termination, and adoption are current options for expectant parents who do not wish to raise a child with DS.

COMMONLYASSOCIATED CONDITIONS

Cardiac

– Congenital heart defects (40–50%) GI/growth

–Feeding problems are common in infancy.

–Structural defects (~12%)

–Gastroesophageal reflux

–Constipation

–Celiac disease (~5%)

Pulmonary

–Tracheal stenosis/tracheoesophageal fistula

–Pulmonary hypertension

–Obstructive sleep apnea (50–75%)

Genitourinary

– Cryptorchidism, hypospadias

Hematologic/neoplastic

–Transient myeloproliferative disorder (~10%): generally resolves spontaneously; can be preleukemic (acute megakaryoblastic leukemia [AMKL]) in 20–30%

–Leukemia (AMKLor acute lymphoblastic leukemia [ALL]) in 0.5–1%

–Decreased risk of most solid tumors; increased risk of germ cell tumors

Endocrine

–Hypothyroidism: congenital or acquired (13–63%) (5)

–Diabetes

Skeletal

–Atlantoaxial instability (15%): ~2% symptomatic

–Short stature is common.

–Scoliosis (some cases have adult onset)

–Hip problems (1–4%)

Immune/rheumatologic

–Abnormal immune function with increased rate of respiratory infections

–Increased risk of autoimmune disorders, including Hashimoto thyroiditis, celiac disease, and alopecia

Neurologic

– Intellectual ability ranging from mild to severe disability. Average is

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moderate intellectual disability.

–Autism spectrum disorder (<18%); autism (<6%)

–Seizures (8%); typically occurring <1 year of age or >30 years of age

–Alzheimer disease: At least 40% at age 40 years develop signs of dementia; percentage increases with age.

Psychiatric

–Attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), oppositional-defiant disorder (ODD), and autism spectrum disorder increased frequency in children.

–Generalized depression and anxiety with increased frequency in young

adults/adults Sensory

–Hearing loss (75%): mostly conductive due to high frequency of asymptomatic middle ear effusion; otitis media (50–70%)

–Visual impairment (60%): mostly strabismus (refractive errors, 15%),

nystagmus, cataracts (15%) Dermatologic

–Xerosis, eczema, palmoplantar hyperkeratosis, atopic or seborrheic dermatitis, onychomycosis, syringomas, furunculosis/folliculitis

DIAGNOSIS

HISTORY

~85% of mothers of infants with DS learn of the diagnosis postnatally, although this is changing with the availability of NIPS.

PHYSICALEXAM

In November 2015, DS-specific growth charts were released. They describe recent growth trends in a sample of children with DS in the United States. These charts can be used as screening tools to help better assess growth and nutritional trends of children with DS, who grow differently from their typically developing peers; these charts do not represent “optimal” growth of children with DS; 50% BMI on the DS-specific growth curves corresponds to the 85% (overweight) on the standard NCHS growth curves (6).

Infants and children

–Brachycephaly (100%)

–Hypotonia (80%)

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–Small ears, often low set and simplified

–Upslanting palpebral fissure (90%)

–Epicanthic folds (90%)

–Brushfield spots

–Depressed nasal bridge

–Short neck, often with increased nuchal folds

–Single palmar crease, single flexion crease on 5th finger

–Increased space between toes 1 and 2, 5th finger clinodactyly, brachydactyly

DIAGNOSTIC TESTS & INTERPRETATION

Initial Tests (lab, imaging)

Maternal prenatal screening includes the following:

–1st trimester: combined screen (maternal age, β-human chorionic gonadotropin [β-hCG], pregnancy-associated plasma protein A[PAPP-A], and nuchal translucency)

–2nd trimester: quad screen (α-fetoprotein, β-hCG, estriol, inhibin-A)

–Sequential screen (combined screen in 1st trimester, if abnormal, obtain amniocentesis or await 2nd trimester quad screening)

–Integrated screen (combined screening in 1st trimester plus quad screen in 2nd trimester)

–NIPS with cell-free DNA(beginning at 10 weeks’gestation) (1,2)

Prenatal diagnosis includes the following:

–Chorionic villus sampling: 1st trimester, ~99% accurate, ~1% miscarriage

–Amniocentesis: 2nd trimester, ~99% accurate, ~0.25% miscarriage rate

Postnatal diagnosis

–Fluorescence in situ hybridization (FISH) can be performed at time of clinical suspicion, but karyotype should always be done to differentiate type of DS.

–Parental (and adult-aged sibling) karyotype is indicated only if translocation

DS found in child.

Labs for newborns

–Echo, with or without murmur

–CBC with differential (to look for transient myeloproliferative disorder)

–Thyroid-stimulating hormone (TSH)

–Audiogram

–Ophthalmologic exam (look for red reflex)

–Swallowing study for those with feeding difficulties

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Follow-Up Tests & Special Considerations

After delivering a prenatal diagnosis, the physician should offer “Understanding a Down Syndrome Diagnosis” (understandingdownsyndrome.org).

If the diagnosis is postnatal, the mother and her partner should be informed of the diagnosis promptly by a physician (preferably the obstetrician and pediatrician or family physician), on the basis of clinical observations and before the karyotype is available, but with consideration of extenuating circumstances (e.g., mother’s medical condition). The spouse/partner and infant should be present unless this would cause undue delay. The meeting should be private. Refer to the baby by name.

In the postnatal setting, the physician should be knowledgeable on the subject of DS and should conduct a discussion with content that is current, respectful, balanced, informative, and realistic but not overly pessimistic, concentrating on what is relevant to the 1st year of life.

Cardiac follow-up, as indicated

TREATMENT

GENERALMEASURES

Genetic evaluation and counseling

ISSUES FOR REFERRAL

Infant stimulation programs (early intervention)

Lactation consultant

Physical/occupational/speech therapy

Educational inclusion often successful

Pediatric cardiologist, if indicated

DS specialty clinics can improve medical outcomes.

SURGERY/OTHER PROCEDURES

Repair of congenital anomalies is appropriate. Plastic surgery for facial features is not recommended.

COMPLEMENTARY& ALTERNATIVE MEDICINE

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