1000-2000 5 ьшò

There is no evidence to support the use of antioxidant or folinic acid supplements in children with DS.

Craniosacral manipulation is dangerous due to potential atlantoaxial instability.

ADMISSION, INPATIENT, AND NURSING CONSIDERATIONS

If the social situation indicates adoption, consider the National Down Syndrome Adoption Network (NDSAN) (www.ndsan.org) national registry of families seeking to adopt a child with DS.

ONGOING CARE

FOLLOW-UPRECOMMENDATIONS

Patient Monitoring

The American Academy of Pediatrics recommends ongoing assessment and review, at least annually, the following surveillance:

Vision: Assess for strabismus, cataracts, and nystagmus by ophthalmologist by 6 months, annually between ages 1 and 5 years, every 2 years ages 5 to 13 years, every 3 years ages 13 to 21 years.

Hearing: neonatal screen with auditory brainstem response (ABR) or otoacoustic emissions (OAE), then audiogram every 6 months until age 3 years, and then annually

Thyroid: initial newborn screen. Repeat TSH at 6 months, 12 months, and then annually (6)[C].

Screening for celiac disease (total IgAand tissue transglutaminase [TTG]- IgA) annually, if symptomatic

Three-view cervical spine films if patient symptomatic, beginning at 3 to 5 years of age

Hemoglobin annually to screen for iron deficiency anemia

Repeat echocardiogram in teens if with murmur or fatigue.

DIET

No special diet, but caloric needs are lower in adolescents/adults with DS than their peers.

Obesity is prevalent at all ages.

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No scientific evidence supports megavitamin therapy or dietary supplements.

PATIENT EDUCATION

National Down Syndrome Congress 800-232-NDSC: www.ndsccenter.org

National Down Syndrome Society 800-221-4602: www.ndss.org

The LuMind Down Syndrome Research Foundation provides information on the latest research for people with DS: www.lumindfoundation.org.

www.lettercase.org provides peer-reviewed booklet for parents who have received a prenatal diagnosis of DS and have not yet made a decision about their pregnancy.

downsyndromepregnancy.org provides a free downloadable book for expectant mothers who have decided to continue their pregnancies after a prenatal diagnosis of DS.

www.downsyndromediagnosis.org provides materials to support prenatal and postnatal diagnoses.

PROGNOSIS

Associated congenital anomalies are the immediate concern during the newborn period.

99% of young adults/adults with DS report being happy with their lives.

Life expectancy ~60 years

REFERENCES

1.Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med. 2016;18(10):1056– 1065.

2.Committee Opinion No. 640: cell-free DNAscreening for fetal aneuploidy. Obstet Gynecol. 2015;126(3):e31–e37.

3.de Graaf G, Buckley F, Skotko BG. Estimates of the live births, natural losses, and elective terminations with Down syndrome in the United States. Am J Med Genet A. 2015;167A(4):756–767.

4.de Graaf G, Buckley F, Skotko BG. Estimation of the number of people with Down syndrome in the United States. Genet Med. 2017;19(4):439–447.

5.Purdy IB, Singh N, Brown WL, et al. Revisiting early hypothyroidism screening in infants with Down syndrome. J Perinatol. 2014;34(12):936–940.

6.Zemel BS, Pipan M, Stallings VA, et al. Growth charts for children with Down syndrome in the United States. Pediatrics. 2015;136(5):e1204–e1211.

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ADDITIONALREADING

For more information: http://brianskotko.com/publications/

University of Kentucky’s Human Development Institute. National Center for Prenatal and Postnatal Down Syndrome Resources. Lexington, KY: University of Kentucky’s Human Development Institute; 2012. www.downsyndromediagnosis.org. Accessed November 14, 2016.

SEE ALSO

Algorithm: Intellectual Disability

CODES

ICD10

CLINICALPEARLS

99% of young adults/adults with DS report being happy with their lives. DS specialty clinics can improve medical outcomes.

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DRUG ABUSE, PRESCRIPTION

Pamela R. Tsinteris, MD, MPH Matthew A. Silva,

PharmD, RPh, BCPS

BASICS

DESCRIPTION

Prescription drug abuse behaviors exist on a continuum and may include:

–Use of medication for nonmedical reasons such as to get high or enhance performance

–Use of medication for medical reasons other than what the prescriber intended

–Use of medication for any reason by someone other than the person for

whom the medication was originally prescribed

Commonly abused prescription medications include opioid analgesics (morphine, oxycodone, hydrocodone, oxymorphone, hydromorphone, fentanyl, methadone, buprenorphine), stimulants (amphetamine, methylphenidate), benzodiazepines (alprazolam, clonazepam, lorazepam), and barbiturates (secobarbital, amobarbital).

Diversion is a term used to describe the rerouting of medications from prescriptions or other legitimate supplies for recreational use or criminal activity, such as selling prescription medication for personal profit.

EPIDEMIOLOGY

In 2011, 1.4 million drug-related ED visits (56%) were due to abused or misused pharmaceuticals.

Almost half of opioid overdose deaths involve a prescription opioid. In 2015, there were >15,000 overdose deaths involving prescription opioids in the United States.

Prescription opioids are the second most common gateway to illicit drug use.

Incidence

Predominant sex: males > females

Predominant age: highest among adults 18 to 25 years, then adolescents and teens 12 to 17 years, followed by adults ≥26 years

In 2011, >20% of the 3.1 million persons who were first-time substance

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abusers used prescription medications nonmedically.

22 years is the average age for those with a first reported instance of nonmedical prescription drug use.

Prevalence

The number of persons with nonmedical opioid dependence increased from 936,000 in 2002 to 1.4 million in 2011.

Lifetime prevalence of prescription drug abuse is highest for opioids, benzodiazepines, and stimulants.

ETIOLOGYAND PATHOPHYSIOLOGY

Young adults perceive prescription medications to be more socially acceptable than other illicit drugs.

Pharmacokinetics, compound purity, government approval, extensive media advertising, and personal or family experiences with prescription medications all contribute to prescription drug misuse and dependence.

Genetics

Variant alleles affect the expression and function of opioid, dopamine, acetylcholine, serotonin, and GABAhelping to explain susceptibility to different forms of prescription and nonprescription drugs.

RISK FACTORS

Sociodemographic, psychosocial, pain-, and drug-related factors

Genetics and environment; family history

GENERALPREVENTION

Try all available nonopioid treatments for pain before prescribing opioids for chronic pain.

Dose reduction of chronic opioids can decrease risks to patients and may improve pain, function and quality of life in some patients (1)[A].

Educate and raise awareness about the dangers of misuse and abuse of prescription drugs. Focus on individuals, families, and communities.

Educate and reinforce safe practices for prescribing medications. Officebased, peer-to-peer education and follow-up with pharmacies help identify suspected abuse behaviors.

Develop or adopt a standard practice agreement for prescribing and monitoring controlled substances with abuse potential (2,3).

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Limit or avoid prescribing controlled medications on the first visit (until a relationship can be established).

Take a thorough history, contact family members and past prescribers, and perform periodic urine drug screens (UDS). Stop prescription analgesics for chronic pain if they are ineffective in improving pain and function.

Prescription monitoring programs (PMP) reduce doctor shopping but not ED visits for drug overdose and prescription drug abuse–related deaths (2).

Avoid benzodiazepines and hypnotics in elderly patients.

Avoid using benzodiazepines for more than 2 to 4 weeks.

Use controlled substances cautiously if patients have a personal or family history of substance abuse or psychiatric disorders.

Identify and treat underlying substance abuse; involve behavioral health providers when possible.

Intranasal naloxone programs in communities with >1 enrollment/100,000 people and 5 or more opioid-related overdose fatalities reduce new opioidrelated overdose deaths (4)[B].

Provide education to family members/caretakers on intranasal naloxone use in the event of a suspected opioid overdose (4)[B].

COMMONLYASSOCIATED CONDITIONS

Opioids: respiratory depression and death with overdose, constipation, low testosterone, and sexual dysfunction with chronic use. Methadone is associated with QT prolongation, which increases risk for torsades de pointes.

Benzodiazepines: withdrawal syndromes/delirium, psychosis, anxiety, sleep driving, blackout states, cognitive impairment, impaired driving while awake; increased fall risk and mortality in elderly patients

Stimulants: hypertension, tachyarrhythmias, myocardial ischemia, seizures, hypothermia, psychosis, hallucinations, paranoia, anxiety

DIAGNOSIS

Initial screening: “How many times in the past year have you used an illegal drug or used a prescription medication for nonmedical reasons?”; primary care setting sensitivity of 100% and specificity of ~75% (5)[C]

Other screening tools:

–Drug abuse screening test (DAST) helps determine patient’s involvement with drugs over the past year. Assess alcohol use with CAGE: Cut down, Anger at being questioned about use, Guilt about prior use, Eye-opener or

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Alcohol Use Disorders Identification Test (AUDIT).

HISTORY

Consider aberrant behaviors when taking a history. Patient may ask for dose escalations and early refills (“spilled the bottle . . . , ” “pharmacist shorted me . .

. , ” etc.). Patients may have a strong preference for one drug, make appointments at end of day and after hours, and/or show hostile/threatening or flattering behavior.

DIAGNOSTIC TESTS & INTERPRETATION

Despite limited evidence of reliability and accuracy, UDS are recommended to identify nonadherent patients (2)[C].Random pill counts can also be useful in identifying patients who take more controlled substances than prescribed.

UDS: Order an expanded panel to detect commonly used opioids (ask specifically for semisynthetics [hydrocodone, hydromorphone, oxycodone] and synthetics [methadone, fentanyl, propoxyphene, meperidine]) along with tramadol and buprenorphine.

Initial Tests (lab, imaging)

Interpretation: Results are positive if drugs that are not prescribed are present; positive in presence of illicit drugs (i.e., marijuana, cocaine); suspect diversion if negative for prescribed drug.

Be suspicious if patient refuses test.

Oxycodone/OxyContin will be positive for oxycodone and oxymorphone.

Hydrocodone will be positive for hydrocodone and hydromorphone.

Codeine will be positive for codeine plus morphine.

Heroin will be positive for morphine (codeine can also be seen as metabolite of common impurity found in heroin).

If the UDS is positive for morphine, it could mean ingestion of morphine, codeine, or heroin.

TREATMENT

Addiction is a treatable chronic disease. The general approach to treatment includes inpatient, residential, or outpatient detoxification as required; counseling and intensive counseling as needed; and ongoing medication-assisted treatment with buprenorphine or injectable naltrexone.

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Begin taper to initiate discontinuation whenever there is evidence of prescription opioid abuse (2)[C]. Some situations indicate immediate discontinuation rather than taper (e.g., diversion or plan to switch to buprenorphine treatment).

Opioid discontinuation through interdisciplinary pain care programs, buprenorphine-assisted programs, and detoxification programs have achieved opioid discontinuation rates >85% (1)[A].

Benzodiazepines cannot be stopped abruptly for risk of seizures and death. Discontinue via slow taper or at a controlled detoxification program.

Amphetamines can be stopped abruptly without risk of severe withdrawal or death.

GENERALMEASURES

Alcoholics Anonymous/Narcotics Anonymous is helpful, as are AlAnon/Alateen for family members. Nonjudgmental interactions and cognitivebehavioral therapy focused on motivational interviewing, goal setting, and brief interventions help manage anxiety, insomnia, and denial while improving willingness to change.

MEDICATION

Opioid detoxification programs use clonidine, buprenorphine, or methadone under the direction of an addiction specialist. Buprenorphine is as effective as methadone but safer. Both buprenorphine and methadone are more effective than clonidine for detoxification.

Buprenorphine and methadone have been found to be similarly effective when used in long-term opioid maintenance therapy. They can both also be effective in the treatment of chronic pain. Long-term therapy is preferable to short-term detoxification. Only an addiction specialist may prescribe methadone for treatment of opioid use disorder. Any provider can prescribe injectable naltrexone without special training. Any provider (MD, DO, NPor PA) may prescribe buprenorphine after completing training and obtaining an X waiver. For details, see https://www.samhsa.gov/medication-assisted- treatment/buprenorphine-waiver-management.

Subutex (buprenorphine) lacks naloxone and is prone to diversion and abuse because patients can crush, snort, or shoot to get high. Suboxone (buprenorphine and naloxone) discourages abuse and diversion because naloxone displaces buprenorphine binding to opioid receptors when taken parenterally (naloxone is not well absorbed sublingually).

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Injectable long-acting naltrexone (opioid antagonist) can reduce cravings for opioids and block pleasurable response to opioids if ingested and does not require special training to prescribe. Naltrexone should not be started until all opioids have been out of the patient’s system for at least 7 days to avoid precipitating severe withdrawal (6).

There is neither support for using or converting to long half-life benzodiazepines before beginning a slow, gradual benzodiazepine taper, although diazepam is often preferred, nor are there any benefits shown using propranolol, buspirone, progesterone, hydroxyzine, or dothiepin to manage withdrawal symptoms. Carbamazepine may be useful in patients who were dependent on ≥20 mg diazepam equivalents daily, and antidepressants may be helpful for depression and anxiety linked to benzodiazepine withdrawal.

Atomoxetine and bupropion SR can also be helpful in managing ADHD symptoms in select patients.

ISSUES FOR REFERRAL

Follow-up is often rare after abuse-related hospitalization. Enlist the help of chemical dependency groups/addiction specialists/pain management and psychiatry/psychology when patients have polysubstance abuse and to treat underlying mood and anxiety disorders, PTSD, and ADHD.

COMPLEMENTARY& ALTERNATIVE MEDICINE

Acupuncture, yoga, meditation, or martial arts may aid in anxiety management and stress reduction.

ADMISSION, INPATIENT, AND NURSING CONSIDERATIONS

Indications for inpatient detoxification include concomitant alcohol and benzodiazepine dependence (increased risk of seizures), mental confusion/delirium, history of seizures, psychosis, active suicidal ideation, serious comorbid medical issues, or absence of social support.

ONGOING CARE

PATIENT EDUCATION

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Controlled medication should be inaccessible to others (ideally in locked box/bag). Diverting medication may result in legal charges. Patients should be aware of addiction potential when starting controlled substances and about withdrawal symptoms if a medication is stopped abruptly. Respiratory depression and death are possible when opioids are mixed with benzodiazepines. Avoid alcohol and illicit drugs.

Red flags include a need for higher doses, if prescription drugs are used to feel high or overcome stress, cravings, and preoccupation thinking about the next dose. Create a mutual plan to stop prescription medications and try something new.

Family dynamics are often an important behavioral component.

REFERENCES

1.Frank JW, Lovejoy TI, Becker WC, et al. Patient outcomes in dose reduction or discontinuation of long-term opioid treatment: a systematic review. Ann Intern Med. 2017;167(3):181–191.

2.Manchikanti L, Abdi S, Atluri S, et al. American Society of Interventional Pain Physicians (ASIPP) guidelines for responsible opioid prescribing in chronic non-cancer pain: part I–evidence assessment. Pain Physician.

2012;15(Suppl 3):S1–S65.

3.Starrels JL, Becker WC, Alford DP, et al. Systematic review: treatment agreements and urine drug testing to reduce opioid misuse in patients with chronic pain. Ann Intern Med. 2010;152(11):712–720.

4.Walley AY, Xuan Z, Hackman HH, et al. Opioid overdose rates and implementation of overdose education and nasal naloxone distribution in Massachusetts: interrupted time series analysis. BMJ. 2013;346:f174.

5.Smith PC, Schmidt SM, Allensworth-Davies D, et al. Asingle-question screening test for drug use in primary care. Arch Intern Med. 2010;170(13):1155–1160.

6.Comer SD, Sullivan MA, Yu E, et al. Injectable, sustained-release naltrexone for the treatment of opioid dependence: a randomized, placebo-controlled trial. Arch Gen Psychiatry. 2006;63(2):210–218.

CODES

ICD10

F19.10 Other psychoactive substance abuse, uncomplicated

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