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ADULTHOOD & LATER LIFE

In adulthood, quality of life is very important. Review the family history, current and past medications, past and current health and the most recent lab requisition results with caregiver. Be sure to perform a physical examination and measure BMI and blood pressure yearly to monitor for obesity risk and follow-up on previous diagnoses (especially hypertension). Discuss family, fertility, education, career/social relations, 

and perform domestic violence and sexual abuse screening at every clinical encounter. Alzheimer’s disease and neurodegeneration is a major concern and both require a comprehensive screening and a review of their history. For certain health problems, e.g., chronic problems and deterioration in function, refer to a specialist as needed.

GUIDELINES

RESOURCES

Developmental Disability Mental Health Services

Speech-Language Pathology

Physical and Occupational Therapy

Family and Geriatric Care

FORMS

Assessment Checklist - Adulthood & Later Life
Assessment Form - Adulthood & Later Life
Health Maintenance Checklist
Health Care Guidelines - Adults 18+

REFERRALS​

Patients may need to be referred for specific consultations. Here is a quick summary:

  • Cardiologist: review echocardiogram; assess for acquired mitral and aortic valvular disease
  • ENT: review audiological evaluation; assess for otitis media
  • Ophthalmologist: review vision screen; assess for glaucoma, cataracts, refractive errors and keratoconus.
  • Sleep specialist: assess for underlying causes of sleep issues/disorders; referral to sleep study and/or CPAP evaluation.
  • Neuropsychiatrist: referral for specialized evaluation for chronic behavioural problems, acute deterioration in function or suspected dementia.
  • Radiologist: conduct imaging for atlanto-axial subluxation, and perform bone density (DEXA) scans for assessing signs of osteoporosis.
  • Dentist: regular care and maintenance every 6 months; assess for gum disease and tooth decay.
  • Oncologist: referral for specific cancers that increase in prevalence with age; particular attention for testicular cancer screening.
  • Gynecologist: review specific reproductive health care needs of women with DS.
  • Dermatologist: review routine care evaluation; address concerns for atopic dermatitis, cheilitis, impetigo and alopecia areata.
  • Geriatrician: review issues with aging and critical/palliative care for the elderly with DS.
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Heart

Heart disease, most commonly valvular (50% of adults with DS)

Assessment: Detailed history and examination annually, monitoring for the development of acquired mitral/aortic valvular disease in older patients.

Recommended: Request an echocardiogram if there are symptoms of concern.

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II 

Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome

Other malformations: digestive, urinary respiratory tract, muscular skeletal.

Hearing

Hearing impairment (Prevalence 38-78% of individuals with DS)

Assessment: Review previous audiological evaluations & assess for otitis media.

Recommended: Refer for evaluation every 2 years.

A general review of the otolaryngologic manifestations of Down Syndrome

Infections and immunodeficiency in Down syndrome

Frequent infections due to primary (T&B cells), secondary (nutritional, lifestyle) and anatomical (e.g. upper respiratory tract) abnormalities.

Vision

Vision problems (Prevalence ~60% individuals with DS)

Assessment: Perform a vision screening every year.

Recommended: Refer for ophthalmic evaluation every 1-2 years.

Linked Reference Title Will Go Here

Yearly Screening, Triennial Evaluation

Thyroid

Thyroid Disease  (Prevalence ~4-18% in individuals with DS)

Assessment: History & examination looking for symptoms/signs of thyroid dysfunction. Note that the risk of thyroid dysfunction increases with age.

Recommended: Thyroid function tests (TSH, fT4) annually.

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II 

Endocrine Manifestations of Down Syndrome

Thyroid disorders in subjects with Down syndrome: an update

Congenital hypothyreosis can manifest beyond newborn period; Treatment of subclinical hypothyreosis (hyperthyreotropinemia) is discussed controversially, but can be first manifestation of thyroid autoimmunity.

Stomach/Bowel

Celiac Disease (Prevalence ~5-16% for individuals with DS)

Assessment: Detailed history and physical examination assessing for chronic symptoms/signs of celiac disease.

Recommended: If symptoms are present, obtain tissue transglutaminase IgA level and quantitative IgA for further assessment. Referral to specialist for abnormal lab results. Screen for colorectal cancer starting at age 50.

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II 

Down’s syndrome and inflammatory bowel disease: Is there a real link?

Feeding problems and gastrointestinal diseases in Down syndrome

Feeding, swallowing, digestive problems can be due to: anatomical malformations; infectious/ immunological problems (H-Pylori, colitis, hepatitis), functional (sucking, swallowing, chewing, reflux).

Development, Cognition, Neurological

Dementia (Prevalence 11% 40-49 yrs; 77% 60-69%)

Assessment: Review history of strange movements, gait/balance problems and PNS/CNS dysfunction. Discuss with family any myopathic or neurological issues that have been observed.  Discuss the onset of seizures, as there is a greater risk with age and comorbidity with dementia. Perform neurological exam and cognitive screens for dementia annually.

Recommended: Perform DS-specific baseline battery of dementia testing once before age 35, then every 1-5 years thereafter.

Cognitive deficits and associated neurological complications in individuals with Down’s syndrome

Down Syndrome: Cognitive and Behavioral Functioning Across the Lifespan

Down Syndrome and Epilepsy 

Neurological phenotypes for Down syndrome across the life span

A prospective 14-year longitudinal follow-up of dementia in persons with Down syndrome

Alzheimer’s Disease and Down Syndrome Rodent Models Exhibit Audiogenic Seizures

Alzheimer disease and Down syndrome: factors in pathogenesis

Supporting persons with Down syndrome and advanced dementia

Down Syndrome and Dementia: Seizures and Cognitive Decline

Down syndrome, Alzheimer’s disease and seizures

1H-MRS metabolites in adults with Down syndrome: Effects of dementia

A model for improving the treatment and care of Alzheimer’s disease patients through interdisciplinary research

The National Task Group on Intellectual Disabilities and Dementia Practices Consensus Recommendations for the Evaluation and Management of Dementia in Adults with Intellectual Disabilities

Toward onset prevention of cognitive decline in adults with Down syndrome (the TOP-COG study): study protocol for a randomized controlled trial

Neuroimaging assessment in Down syndrome: a pictorial review

Non-verbal skills and memory are strengths compared to verbal skills. Attention and executive functions get worse with age. Emotional and behavioural deterioration associated with neurodegeneration/dementia in adulthood.

Blood

Perform necessary lab tests.

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II 

Infections and immunodeficiency in Down syndrome 

Infections and immunodeficiency in Down syndrome

The Biology, Pathogenesis and Clinical Aspects of Acute Lymphoblastic Leukemia in Children with Down Syndrome

The Pattern of Malignancies in Down Syndrome and Its Potential Context With the Immune System

High incidence of lymphoblastic/myeloblastic leukemia in infancy/childhood; low incidence of solid tumors. Transient myeloproliferative disease in infants. T&B cell abnormalities.

Genetics

Down syndrome occurs when an individual has a full, or partial, extra copy of chromosome 21. There are three different forms of Down syndrome depending on the way how the extra copy of chromosome 21 presents: Trisomy 21, Mosaicism, Translocation.

Trisomy 21

Mosaicism

Translocation

Underlying Pathophysiology

Genetic Counselling

Chromosome 21, Trisomy 21, Karyotype, Non-disjunction, Mosaic, Mosaicism, Robertsonian, Translocation, Genetic Counselling

Respiration

Pneumonia (major cause of death in DS)

Assessment: History and examination looking for symptoms/signs of asthma and pneumonia.

Recommended: If dysphagia is present, refer to speech and language therapist.

Linked Reference Title Will Go Here

Infection, Asthma

Sleep Issues

Sleep Apnea (50-80% of adults with DS)

Assessment: Determine current sleep issues/concerns: how long issues have persisted, daytime behavioural and activity issues, childhood sleep issues, any sleep assessments or consultation conducted or medications given.

Recommended: Refer for polysomnography.

A review of the nature and treatment of sleep disorders in individuals with developmental disabilities  

Cognitive status in Down syndrome individuals with sleep disordered breathing deficits (SDB)

Obstructive Sleep Apnea in Adults with Down Syndrome

Polysomnographic phenotypes in developmental disabilities

Screening for Obstructive Sleep Apnea in Children with Down Syndrome

Self-injurious behavior and sleep disturbance in adults with developmental disabilities

The restless legs syndrome

Validation of the International Restless Legs Syndrome Study Group rating scale for restless legs syndrome

Obstructive sleep apnea in patients with Down syndrome: current perspectives 

Obstructive sleep apnea can cause cognitive/ behavioural deterioration; untreated sleep apnea causes cardiovascular morbidities.

Musculoskeletal

Atlantoaxial instability (Prevalence 1-2% for individuals with DS), Osteoporosis 

Assessment: Clinical history and examination looking for myelopathic signs/changes.

Recommended: Perform bone mineral density screening with regular testing for suspected or confirmed osteoporosis and lateral cervical spine x-rays to confirm neutral position prior to any surgeries or anesthetic procedures.

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II 

Total Hip Arthroplasty in Down Syndrome Patients: An Improvement in Quality of Life

Myopathy, Bone Mineral Density Screening, Lateral Cervical Spine x-rays

Immunization

Recommended: Annual influenza vaccine and consider Hep A/B  for patients in group home settings and/or on hepatotoxic medications.

Immunisation Protecting People with Down’s Syndrome Against Infection

Primary care of adults with intellectual and developmental disabilities

Dental

Periodontal Disease (increased risk in adults with DS)

Recommended: Dental exam every 6 months. Referral to orthodontist if needed. 

Dental Care for Patient with Down Syndrome 

Down Syndrome Review for Dental professionals

Oral Exam

Behaviour & Mental Health

Monitor/assess for behaviour and mental health issues. Discuss with family any noticeable changes in typical behaviours, social states, or overall deterioration of regression (both in early and late adulthood). Regression (eg. intellectual, behavioural or neurological deterioration) is not always an onset of dementia, rather it is important to evaluate for treatable medical problems that may underly regression. For more information on behavioural changes and mental health, please click the links below. Review history of psychiatric issues (e.g. depression, OCD, other mood disorders).

Evaluate for medical problems that may underlie behaviour changes (e.g. thyroid disorder, sleep apnea/disturbances, celiac disease, gastroesophageal reflux, and constipation). In women, determine symptoms for early menopause; look for medical causes for changes; otherwise conduct screening for regression or dementia.

Catatonia in Down Syndrome: Systematic Approach to Diagnosis, Treatment and Outcome Assessment Based on a Case Series of Seven Patients

Effectiveness of exercise intervention on improving fundamental movement skills and motor coordination in overweight/obese children and adolescents: A systematic review

Down Syndrome: Cognitive and Behavioral Functioning Across the Lifespan 

The association between behavioural and emotional problems and age in adults with Down syndrome without dementia: Examining a wide spectrum of behavioural and emotional problems

Down syndrome and dementia: Is depression a confounder for accurate diagnosis and treatment?

Maintenance Electroconvulsive Therapy for Depression With Catatonia in a Young Woman With Down Syndrome

Effects of Antidepressants on Longevity and Dementia Onset Among Adults With Down Syndrome: A Retrospective Study

Prevalence of autism spectrum disorder symptomatology and related behavioural characteristics in individuals with Down syndrome

Depression in Down Syndrome: A review of the literature

The autistic phenotype in Down syndrome: differences in adaptive behaviour versus Down syndrome alone and autistic disorder alone

Non-verbal skills and memory are strengths compared to verbal skills. Attention and executive functions get worse with age. Emotional and behavioural deterioration associated with neurodegeneration/dementia in adulthood.

Sexuality

Perform annual STD screening once between 13-64; test annually for at risk patients (especially with patients with multiple partners, unprotected sex, pregnant women, history of STDs). Discuss STD prevention and contraception.

Discuss sexual function and fertility for both men and women. Counsel fertility and risk of recurrence of DS (50%) for women with DS; few reported cases in men with normal phenotype in all cases. For males, perform a yearly testicular exam; for females, perform a yearly mammography (inconclusive value and low risk for breast cancer in DS population; done for suspected cases). Conduct pap smear assessments to screen for cervical cancer and gynecologic concerns after age 21; perform every 2-3 years with aging

Co-occurring medical conditions in adults with Down syndrome: A systematic review toward the development of health care guidelines. Part II 

Bone mass, gonadal function and biochemical assessment in young men with trisomy 21

Genetic causes of male infertility

Fertility in men with Down syndrome: a case report

Gonadal function in young women with Down syndrome

Human male infertility: chromosome anomalies, meiotic disorders, abnormal spermatozoa and recurrent abortion 

Ongoing Pregnancy Following PGS and Transfer of Euploid Embryos

Sex and Genes, Part 1: Sexuality and Down, Prader–Willi, and Williams Syndromes

Sexuality and Down syndrome

Genomic integrity of the Y chromosome sequence-tagged-sites in infertile and Down syndrome Jordanian males

Endocrine Manifestations of Down Syndrome

STD Screening, Yearly Testicular Exam, Mammography, Pap Smear Assessments

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