Health in Adults with Cornelia de Lange Syndrome - CdLcdl.dk/Jane_Law_Health_in_Adults.pdfHealth in...

Health in Adults with Cornelia de

Lange Syndrome

Dr Jane Law

NSW Developmental Disability Health Unit

Jane Law - NSW DDHU - CdLS

Conference 2011

Overview

• Comprehensive Health Assessment -what is

involved

• Common health problems

• Preventative measures

• Screening

• Adult CdLS clinic – brief look

Conference 2011

Characteristics of health conditions

in people with ID

• Many health conditions in people with

intellectual disability are:

– Multiple - multiple conditions seen at younger age

than in general population

– Complex

– Chronic – and occur at younger age than in general

population - e.g. dementia, osteoporosis

Conference 2011

Preventing health problems

• Many of these problems are more common or become worse with ageing

• Communication difficulties can make it difficult for people with developmental disability to recognise and communicate pain, discomfort and other symptoms of ill health

• Identifying these problems therefore often requires screening (testing) of people with developmental disabilities

• Being aware of these conditions enables treatment or prevention of further disease

Conference 2011

The Health Assessment.

• What are they?

• How often and what should this involve?

• History

• Examination

• Investigations

• Diagnosis

• Recommendations

Assessment of Adult with CdLS

• Full diagnostic workup

- differential diagnosis of problems

- assessment of co-morbidities

• This will identify areas to be addressed in a

management plan

• Evaluation of current and future treatments

Conference 2011

Comprehensive medical assessment

• There could be any number of morbidities but a systematic approach and mindfulness of common causes particularly in those with ID/CdLS will mean less likely to miss a physical cause.

• General practitioner

• General physician (endangered species)

• Geriatricians/rehabilitation physicians

• Clinics specialising in medicine of people with intellectual disabilities. Developmental Paediatricians

Developmental disability physician

Conference 2011

Clinical History

• Informants

-Patient (acquiescence and suggestibility)

-family members (background, bias,

selectivity)

-support workers/advocates (as above)

• Old notes and documents

• Clinicians: Specialists and allied health workers

Conference 2011

Make the most of your Medical visits:

• Book a long appointment

• Attend with knowledgeable support person

• Find out if the surgery and the examination table

are easy for you to access

• Before the visit, write down all the questions you

want to ask and issues you would like to discuss

• Take all your current medications and a record

of your medical history

• Bring patience, picnic, change of clothes

Conference 2011

Medical examination

• Medical examination

Conference 2011

Medical examination

• Physical examination: specific or general

• Full medical examination = clothes off.

• Mental /Psychological assessment

Conference 2011

Investigations

• Blood tests: FBC, Fe studies, biochemistry,Lipids glucose, Hepatitis serology,TFT. B12, folate, Vit D H Pylori serology or breath test.Karyotype/CGH Array and metabolic screen

• Urine for microscopy and culture

• ECG/echocardiography

• Imaging: u/s, Xray, CT, MRI

• Bone densitometry

• Screening tools developed for people with ID

Conference 2011

Management

• Specific problems

• Screening – following standard protocols

• Women’s health

• Men’s health

• Preventative measures

• Immunisations

• Lifestyle modification

• Environmental changes

• Behavioural management

Conference 2011

Conditions to be aware of in older people

• Coronary heart disease

• Stroke

• Cancer

• Hypertension

• Diabetes

• Vision / hearing problems

• Arthritis

• Osteoporosis/vitamin D def.

• Falls

• Dental problems/tooth loss

• Poor nutrition

• Impaired immunity

• Urinary incontinence

• Constipation

• Hypothyroidism

• Skin fragility

• Depression

• Dementia

• Polypharmacy / iatrogenic

illness

Conference 2011

Behavioural concerns

• Underlying physical problems (eg pain,

discomfort, thyroid disease)

• Environmental factors (eg change of carer,

loss of family or friends due death, illness or

moving away)

• Management:

– Behavioural +/- medications

– Referral to a psychologist

– Referral to a psychiatristJane Law - NSW DDHU - CdLS

Conference 2011

Mental Health Issues in PWID

• Self injurious behaviours

• Autism/autism spectrum disorder

• Depression

Challenging behaviours Psychiatric illness

Physical illness

Psychosocial problems

All of the above.

Conference 2011

Medical Conditions common to PWID

• Epilepsy

• Respiratory problems

• Oral health – poor dentition

• Malnutrition

• Musculoskeletal - osteoporosis

• GIT

– GORD +/- H.pylori infection

– Constipation

– Surgical

Conference 2011

Sensory impairment

• Vision impairment 7 times higher than general

population ( Warburg 1994)

• Catarcts are common and can present with behavioural changes

• Includes problems with near vision or far vision

• Degenerative changes (ie worsen with time)

• Deafness 11 times higher than general

population

Conference 2011

Prevention - Sensory

Vision impairment• Routine assessment by an eye specialist (ophthalmologist) or optomotrist

every 5 years from age 45 years is recommended.

• Obviously if there is an existing vision problem more frequent reviews may be necessary

Hearing• Formal hearing test every 5 years from age 45 years (or earlier if

there appears to be problems)

• The Australian Government Hearing Services Program: • Phone: 1800 500 726

• Office of Hearing Services Website: www.health.gov.au/hear

Conference 2011

Iatrogenic

Toxins

Alcohol

Arsenic

Mercury

Cannabis

Prescription Drugs

Anticonvulsants

Antipsychotics

Sedatives

Antidepressants

Lithium

Polypharmacy

Conference 2011

Prevention – medication problems

• Review by GP of all medications every 3-6 months

• Webster packs and dosette boxes are important particularly when there are multiple carers and support staff

Conference 2011

Life expectancy in people with

intellectual disability

• Life span increasing but still less than

general population

– up to 20 years less (Bittles et al. 2002)

• Mild intellectual disability & few medical

problems – near average life expectancy

Conference 2011

CdLS Clinic

• 2-4 clinic days a year

• Comprehensive medical assessment

– Specific complaints

– Screening – following standard protocols

– Prevention

– Assist in coordinating patients care locally

• Initial appointment 2hours with a 3month follow-up

• Annual medical reviews offered at DDHU

Conference 2011

CdLS Clinic

• 15 patients seen

-14 CdLS diagnosed prior to initial visit

-One patient did not have CdLS – CHARGE syndrome

-One new diagnosis made

- 2 patient with features suggestive of CdLS at general clinic

• Outreach consultation days –Melbourne = 7 consultations

– Adelaide = 10 consultations

Conference 2011

CdLS Clinic at Health Unit

• 9 female 6 male with CdLS

• Age range 13years – 47 years Average: 28.7yrs

• 4 patients - Genetic diagnosis confirmed

11 patients – no genetic diagnosis

Conference 2011

CdLS Clinic

Level of Intellectual Disability

Conference 2011

Mild, 1

Moderate, 2

Severe , 9

Profound , 3

Clinic patients cont.

• Main clinical problems

Behavioural concerns

Constipation

Vision

Conference 2011

Weight of Patients with CdLS

• Weight

– Underweight = 3

– Healthy weight range = 10

– Overweight = 2

• The 2 patients PEG fed in healthy range

Conference 2011

Clinic patients -Challenging behaviours

• Sleep disturbances – 5 patients

• Self-injurious behaviours – 12 patients

o head banging

o wrapping

o skin picking/scraping

• Ritualistic/ocd = 9 patients

• Aggression = 6 patients

• Stripping = 3 patients

Conference 2011

General impressions at clinic

• GIT symptoms are ongoing• GORD

• CONSTIPATION

• Nutrition well attended

Women normal menstruation

• Vitamin D levels from 7 patients from initialblood tests

– Normal = 4 patients

– Mild insufficiency between 40-50ng/mil = 3 pts

Conference 2011

Summary

• A requirement for the

diagnosis or exclusion of

a medical or psychiatric

condition requires a

comprehensive medical

assessment and the use

of appropriate

assessment tools specific

to the population of

people with intellectual

disability.

• Gastrointestinal

• Neurological

• Epilepsy / trauma

• Osteoporosis and #

• Sensory impairment

• Endocrine disorders

• Toxins

• Nutritional disorders

• Infection

• Cardiovascular disease

Conference 2011

Health Guidelines

• Developed by the Physical Health Special

Interest Research Group of the International

Association for the Scientific Study of Intellectual

Disability (IASSID)

• Ratified by WHO in 2006

Conference 2011

Acknowledgements

• CdLS Association

• NSW DDHU

• CDS

• Royal Ryde Rehabilitation Centre, Sydney

• My patients, their families and carers.

Conference 2011

Health in Adults with Cornelia de Lange Syndrome - CdLcdl.dk/Jane_Law_Health_in_Adults.pdfHealth in...

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