Presentations
People with disabilities evident in the developmental period (before 16 years, or before the end of school-age) may be referred to adult rehabilitation physicians for leadership in the management of persisting neurological, muscular, and skeletal disabilities.
Some may be referred because they have cognitive and behavioural disabilities (intellectual developmental disorders) which limit their vocational options.
Referrals of teenagers with complex or multiple disabilities may come from paediatric rehabilitation physicians who plan special transition processes with multi-medical and multidisciplinary practitioners.
Adults with intellectual developmental disorders may present having a need for collaboration and communication with neurologists, general physicians, and psychiatrists. The rehabilitation physician may be best placed as the lead clinician in special clinics held for this purpose.
Adults with complex developmental disorders may be referred when they have been admitted to hospital for acute illness management. The rehabilitation physician role is then one of support for prevention of deconditioning and other secondary complications, for coordination of care as they stabilise in the hospital setting, and for discharge planning and follow-up disability management as required.
A key feature of presentations is the presence of family members or case workers who will advocate for and with persons with intellectual disabilities.
Conditions associated with brain development; person may/may not have intellectual developmental disorders
Perinatal
- Head trauma at birth
- Infections at birth
- Intra-cranial haemorrhage
Postnatal
- Behavioural diagnoses:
- autism spectrum disorder
- ADHD
- Demyelinating and degenerative:
- acute disseminating
- encephalomyelitis
- Head injuries during childhood
- Infections:
- herpes simplex
- measles
- rubella
- Seizure disorders:
- early infantile
- late infantile
- Lennox–Gestault syndrome
- post-trauma
Prenatal
- Brain formation:
- cerebral palsy
- Dandy–Walker syndrome
- spina bifida
- Chromosomal disorders manifesting as recognisable syndromes:
- Angelman syndrome
- Down syndrome
- Fragile X syndrome
- Klinefelter syndrome
- muscular dystrophies:
- Prader–Willi syndrome
- Rett syndrome
- Turner syndrome
- Inborn errors of metabolism:
- glycogen-storage disease
- phenylketonuria
- Wilson disease
- Maternal environmental influences:
- AIDS
- alcoholism
- diabetes
- drug abuse
- malnutrition
- varicella infection
- Unknown causes
Conditions associated with skeletal development
- Congenital hip disorders
- Congenitally acquired limb deficiencies
- Scoliosis
- Skeletal dysplasias resulting in bone deformity and length discrepancy
Physiological conditions co-occurring in chromosomal syndromes
- Blood dyscrasias
- Congenital cardiovascular abnormalities
- Hypothyroidism, hypogonadism
- Neuro intestinal – swallowing and elimination dysfunction
- Nutritional disorders
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients' needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
No less common or more complex presentations and conditions listed
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients' needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
- Descriptions of physical and intellectual development and subsequent manifestations of limitation, delay, or loss
- DSM and service provider descriptions of levels of cognitive and behavioural disabilities and relevant support needs:
- assessment tools used to determine ‘IQ’ and behavioural associations as the person ages biologically
- intellectual developmental disorders:
- arose in childhood (below 16 years)
- behavioural impacts on lifestyle
- ‘IQ’ below 70
- mild, moderate, severe, profound
- Familiarity with implications of use of neuroleptic medications for epilepsy, behavioural disturbances, and gastrointestinal disorders
- Life expectancy of most persons with developmental disabilities, and how it changes with the severity of the condition and multiplicity of conditions. Prevalence of adults with intellectual developmental disorders is rising
- Prevalence of common developmental disorders in adult populations
- Sociology of disability in terms of deinstitutionalisation, and National Disability Insurance Scheme
- Supported accommodation policy regarding health of people with intellectual developmental disorders:
- facilitating access to appropriate practitioners
- identification of clinical risk early
- regular review of progress
- safe and health-promoting environments
- The greater rates of co-occurring conditions such cancers, diabetes, GIT disorders, and hypothyroidism
Investigations
- Awareness of special situations such as atlanto-axial dislocation when considering anaesthesia for surgery for people with Down syndrome
- Consideration of possible need for sedation for radiological and electrodiagnostic tests – organising special times, family or carer presence
Examinations
- Comprehensive behavioural assessment
- Physical, functional, and cognitive assessments
Behaviour management planning
- Impacts of psychotropic medications
- Medication and behavioural management of challenging behaviour
- Technical and psychological behavioural assessment
Bioethical decision making
- Genetic counselling for families
- Support issues in relation to death and dying in people with intellectual disability
Communication
- People with developmental disabilities may or may not be able to explain their health issues. They will be accompanied by family members, carers or case workers who know them well
- Rehabilitation physicians will commonly be collaborating with paediatricians and general practitioners when patients are transitioning to the adult health system for care
- The appointments should be made with these concerns in mind in terms of allowing adequate time for centre-based or home assessments
- There will be a special call for collaboration with neurologists and other physicians, and psychiatrists, in patients’ adult medical teams
Family and community support
- Developing competence in communicating with people with disabilities
- Genetic counselling
- Local consent and guardianship laws
- National Disability Insurance Scheme
- Role of parents and family in rehabilitation management
- Social implications of chronic illness and disability in children
- Understanding of the role of family members and case workers in advocating for patients
Key transitions
- From children’s health care to adult health care
- From children’s services to adult services
- From living at home to living in adult supported accommodation settings
- From living in disability supported accommodation to living in aged care settings
Medication management of acquired illness
- Medications for gastrointestinal disorders
- Neuroleptics for epilepsy
- Psychotropics for behaviour management and mental illness
Medicolegal issues
- Consent
- Guardianship
- Potential for abuse and victimisation
- Research
Psychological aspects of disability
- Psychological adjustment of child and family to disability in transitioning years
- Training of support workers in supported accommodation
- Underlying factors in challenging behaviour, particularly self-injuring behaviours
Supporting patient health and wellbeing
- Impact of ageing on physical disabilities
- International guidelines with respect to health and health care for people with intellectual disabilities
- Issues of transitioning and adulthood in people with lifelong disability:
- avocational/vocational preparation
- bowel and bladder care
- exposure to health risks, e.g. alcohol, drugs, and smoking
- independent living skills
- menstruation management
- onset of chronic conditions and chronic diseases
- parenting
- potential concerns with driving
- reproduction
- sexuality
- sport for people with disabilities
- support needs with the development of dementia, e.g. early onset in people with Down syndrome
- Nonspeaking indicators of pathology, particularly pain
