8. Adults with developmental disabilities Flashcards
1
Q
Describe: Neurodevelopmental disorders (6)
A
- The DSM-5 defines a group of conditions termed “neurodevelopmental disorders”, characterized by developmental deficits that result in “impairment in personal, social, academic, or occupational functioning.”
- The Dx of intellectual disability falls within this group, and is defined as objectively confirmed deficits in intellectual function (e.g., reasoning, problem solving, and learning) and deficits in adaptive functioning (e.g., independent living, social participation, and communication), with onset in the developmental period.
- In Canada, the terms “intellectual and DD” are used synonymously.
- DD affects between 1% and 3% of Canadians. Adults with developmental disabilities face a myriad of unique physical and mental health issues, which have been increasing in complexity in proportion to this population’s lifespan.
- The primary care physician is the mainstay of care for these adults in the community, and adequate treatment requires nuanced appreciation of the biologic, psychological, and social determinants of health.
- It is important to note that not all patients diagnosed with the conditions described below will be intellectually disabled. For example, a proportion of patients with cerebral palsy or autism spectrum disorders will have normal intellectual functioning.
2
Q
Describe the pathophysiology of neurodevelopmental disorders (4)
A
- Brain development in the human begins in the third week of gestation and continues in some fashion at least through to late adolescence/early adulthood.
- The fundamental structures of the brain are established by the end of the embryonic period (eighth week of gestation), and further growth and refinement of these structures continue through fetal development.
- Disruption of either gene expression (e.g., Down syndrome, Fragile X syndrome) or environmental input (e.g., fetal alcohol spectrum disorders, congenital infections) in utero can result in the characteristic phenotypes of the disorders, causing intellectual disability.
- As brain development continues after birth, postnatal injuries (e.g., cerebral palsy, postnatal infections) may also result in developmental disorders (DD).
3
Q
Describe history of neurodevelopmental disorders (13)
A
- Adapt language during history taking to the patient’s intellectual/adaptive level
- If unknown, establish etiology of DD (see Diagnosis section)
- Assessment of intellectual/adaptive functioning. This may require psychologist referral if patient has not had past assessment or is undergoing a major life transition.
- Detailed social history, including housing, education, occupation, and social supports
- Screen for symptoms of medical disorders that are prevalent in DD
- Inquire from patient and caregivers about problem behaviors
- Rule out underlying physical, environmental, or emotional stressors
- Consider unreported pain as a causative factor
- Tools such as the Aberrant Behavior Checklist-Community and Psychiatric As- sessment Schedule for Adults with DD can be used to screen for psychiatric disorders.
- Assess for signs/symptoms of abuse/neglect
- Sexual activity: number of partners, contraception, and STI prevention
- Alcohol and drug use
- Medication review q3mo: indications, dosages, adverse effects, interactions, compliance
- Ensure immunizations (including pneumococcal, influenza) up to date. Consider hepatitis/HIV screening and hepatitis immunizations for at-risk adults.
- Assess capacity to provide informed consent for treatment and/or investigations
- If a patient is incapable of providing consent, attempts should be made to in- volve the patient in the decision-making process.
4
Q
Name symptoms of medical disorders that are prevalent in DD (5)
A
- Cardiac disease: including CAD and congenital heart disease
- Respiratory disease: aspiration pneumonia and OSA are common. Screen at least annually for swallowing difficulties.
- GI: screen annually for symptoms of GERD, and consider GI/feeding problems as a cause of behavioral or weight changes
- Neurologic: assess for symptoms consistent with seizures/epilepsy as well as early onset dementia
- Endocrine: screen for symptoms of hypothyroidism and hypogonadism. Patients with Down syndrome in particular have high incidence of thyroid disease.
5
Q
Name signs/symptoms of abuse/neglect (5)
A
Red flags include
- unexplained injuries
- high levels of caregiver stress
- inappropriate aggression/sexual behaviors
- depression
- substance abuse.
6
Q
Name Causes of developmental disability (Figure)
A
7
Q
Describe physical exam of neurodevelopmental disorders (3)
A
- If etiology not established, examine for characteristic dysmorphisms or neurologic signs
- Physical exam tailored to comorbid medical conditions and risk factors of disease
- General: BMI and waist circumference yearly
- H&N: annual office-based vision and hearing screen (Snellen chart, whispered voice test), dentition, thyroid exam
- CVS/respiratory
- Neurologic: focal neurologic signs, repeated cognitive testing to assess for dementia, if possible
- MSK: scoliosis, spasticity, and/or contractures
- Screening for cervical, breast, testicular, prostate, and colon cancer as per Canadian guidelines
8
Q
Describe investigations of neurodevelopmental disorders (8)
A
- Consider cytogenetic testing if etiology unknown
- Consider further cardio (e.g., ECHO), respiratory (CXR, swallowing studies), and neurologic (EEG) studies as indicated by history and physical exam
- Screen for H. pylori infection in symptomatic adults or asymptomatic patients residing in institutions/group homes
- Consider testosterone level in all males at least once after reaching puberty, or in any patients exhibiting hypogonadism
- Consider diabetes screen in patients who are obese or have other metabolic risk factors
- Thyroid function at regular intervals (e.g., q1–5yr) and with changes in behavior/ adaptive functioning
- Adults with Down syndrome have specialized guidelines for surveillance.
- Assess and possibly refer for psychological testing to establish baseline and better detect dementia
9
Q
Describe: Health surveillance in adults with Down syndrome (8)
A
- Each health maintenance visit
- Review symptoms of celiac disease and investigate as indicated
- Screen for symptoms of Obstructive sleep apnea
- Review cervical spine positioning precautions, assess for symptoms of myopathy
- Annual
- TSH
- Hemoglobin
- Audiologic exam
- Exam for acquired mitral/aortic valve disease
- Every 3 yr
- Ophthalmologic assessment for cataracts, refractive errors, corneal thinning, or haze
10
Q
Describe DX: Neurodevelopmental disorders (2)
A
- Features on history leading to Dx
- Pregnancy: complications of pregnancy, known toxin exposure, congenital infections, perinatal trauma/infections
- Associated domains of difficulty: physical impairments, social communication, ADHD features
- Family history of genetic conditions/inborn errors of metabolism Exam for characteristic physical and behavioral features
11
Q
Describe etiology: Down syndrome (3)
A
- Sporadic trisomy 21 in 95% of cases
- Unbalanced translocation in 3% – 4% , 25% of these are familial
- Mosaicism in 1% –2%
12
Q
Describe characteristic features: Down syndrome (6)
A
- Small head
- Flattened facial features
- Protruding tongue
- Upward slanting eyes
- Single palmar crease
- Short fingers
13
Q
Describe investigations: Down syndrome (1)
A
FISH study, with positive result followed by chromosome analysis for translocations
14
Q
Destribe etiology: Fragile X (1)
A
CGG trinucleotide repeat of FMR1 gene on X chromosome
15
Q
Describe Characteristic Features: Fragile X (9)
A
- Long face
- Large ears
- Hyperextensible joints
- Macroorchidism
- Flat feet
- ADHD
- Autism
- Delayed speech
- Social anxiety
21
Q
Name Characteristic Features: Fetal alcohol syndrome/ spectrum disorder (9)
A
- Facial anomalies:
- short palpebral fissures
- flat upper lip
- flattened philtrum
- flat midface
- Growth retardation
- CNS:
- microcephaly
- structural abnormalities
- neurologic hard/soft signs
- Behavioral/cognitive difficulties
