Therapeutic Guidelines - Developmental Disability

Assessment
Symptoms more common in people with developmental disability
- Changes in weight
- Pica, halitosis and nasal discharge
- Reflux and regurgitation
- Inability to cope with menstruation
- Spasticity and contractures
- Challenging behaviour

How to communicate with your patient

Important issues in communication
- Focus on abilities, not disabilities
- Establish rapport
- Obtaining information from other sources
Maximise communication
- Reception and preappointment procedures
- Health records maintenance
- Consultation time and frequency
Facilitate communication and history taking
- Greeting your patient
- Assessing communication skills
- Using clear communication
- Using repetition
- Asking open-ended questions and giving a choice of alternatives
- Providing concrete examples and diagrams
- Monitoring the patient’s response

Methods of communication

Augmentative and alternative communication
- Unaided systems
- Aided systems
- Multimodal communication
Communicating with someone who has complex communication needs
- Determining how the person communicates
- Communicating directly to the person with disability
- Communicating through a support person

Informing parents of their child’s disability

General principles
- Location and people present
- When to convey the news
- Manner and content of delivery
- Facilitate ongoing support
Specific issues
- When the disability is detected at birth
- When the diagnosis occurs later in life

Assessment of developmental delay and disability

Aetiology
Normal development
Presentation
- Children
- Adults
- Patterns of presentation
- Rate of development
Assessment
- Key points to note
- History taking
- Examination
- Investigations
Discussing the diagnosis with parents
Further assessment and referral
- Referral to a genetics service
- Developmental and psychological testing

Management of a child with developmental disability

General principles
- Children first
- Patterns of development
- Habilitation
- Families
Role of the general practitioner
Health care issues
Services for the child and family
- Consumer groups
- Early intervention services
Communication
Special equipment and aids
School
Further reading

Management of an adolescent with developmental disability

Role of the general practitioner
Communication
Medical issues
- Pubertal changes
- Substance misuse
- Mental health
Care of the family
Cognitive issues
- Development in adolescents with intellectual disability
Psychosocial issues
- Friendships
- Emergence of sexuality
- Increased independence from the family
- Development of an adult identity
Challenging behaviour
School
- Transition from school
- Continuation of therapies
- Establishing new friendships
Leaving home

Adult health care

Commonly unrecognised or untreated conditions
Vision and hearing impairments and disorders
Gastrointestinal problems
- Gastro-oesophageal reflux disease
- Mild, intermittent gastro-oesophageal reflux disease
- Gastro-oesophageal reflux disease requiring regular therapy
- Helicobacter pylori infection
- Constipation
Urinary incontinence
Endocrine disease
- Osteoporosis
- Osteomalacia
- Thyroid disease
- Diabetes
- Respiratory disease

Aged care

General clinical assessment
Health screening and prevention
General medical issues
Ageing and developmental disability syndromes
Medication review
Specific medical issues
- Cardiovascular and cerebrovascular disease
- Diabetes
- Vision and hearing impairment
- Skin and temperature homeostasis
- Gastrointestinal conditions
- Urinary incontinence
- Arthritis
- Osteoporosis, falls and fractures
- Hypothyroidism
- Parkinson’s disease
Psychiatric issues
- Delirium
- Dementia
- Depression, bereavement and grief
- Chronic psychiatric disorders
Ageing in place
- Environmental modifications
Placement in aged care facilities
Further reading

Preventive health care and health promotion

Yearly physical
Health screening
Nutrition
Exercise
Immunisation
Medication review
Abuse
Further reading

Challenging behaviour

Management
- Safety
- Describing behaviour
- Limitations and needs of support persons
- Medical and psychiatric assessment, and continued information gathering
- Integrate other resources and assessments
- Review and plan intervention
- Manage and refer
- Monitor and review

Medication and challenging behaviour

Before prescribing medication
Establishing a treatment plan
Precautions in prescribing psychotropic medications
Behavioural emergencies
Repeated and serious acts of aggression
Harmful self-injurious behaviour
Continued agitated and restless behaviour
Stereotyped behaviour

Assessment of psychiatric disorders

Presentation of psychiatric disorders
Assessment
- History taking
- Examinations and investigations
Anxiety disorders
- Generalised anxiety disorder and panic disorder
- Obsessive compulsive disorder
- Phobias
Mood disorders
- Depression
- Bipolar affective disorder
- Mixed mood episode
Psychoses
Co-morbidities
- Epilepsy
- Autism spectrum disorders
- Impairments in prefrontal function

Management of psychiatric disorders

Key management points
Psychological interventions
- Supportive psychotherapies
- Behavioural therapies
- Psychoanalytically oriented psychotherapy
Pharmacological management
- Principles of psychotropic medication use
- Withdrawal from antipsychotic medication
- Investigations prior to treatment with psychotropic medication
- Treatment in situations of diagnostic uncertainty
- Psychotic disorders
- Mood disorders
- Anxiety disorders

Epilepsy

Epilepsy and specific developmental syndromes
Diagnosis
- History taking
- Differential diagnosis
- Investigations
Classification of seizures
Management
- Anitepileptic drug treatment
- Specific areas of management
- Other management issues

Nutritional disorders

Assessment of weight status
Underweight
- Children
- Adults
- Consequences of underweight
- Assessment
- Management
Overweight and obesity
- Prevalence
- Consequences of overweight and obesity
- Assessment and management
Specific nutritional deficiencies
- Vitamin B12
- Other nutrient deficiencies

Dysphagia

Presentation
Assessment
- Clinical assessment
- Investigations
Management
- Medications
- Saliva control
- Oral health
- Seating
- Communication
- Decision-making framework

Oral health

Dental caries (tooth decay)
Dental erosion (tooth wear)
Periodontal disease (gum disease)
Dental malocclusion
Further reading

Sexuality

Factors affecting development of sexuality
- Social factors
- Access to information
- Factors relating to specific disabilities
Counselling
Issues of privacy
Inappropriate sexual behaviour
Masturbation
- Excessive masturbation
- Anal masturbation
Homosexuality
Sexual abuse and exploitation
Sexual offending behaviour
Contraception
Sterilisation
Preventive health care
Further reading

Women’s health

Management principles
Menarche and onset of puberty
Menstrual management
- Education
Reproduction
- Education
- Sexuality
- Pregnancy outcomes
Health screening
Contraception
- Rhythm method and barrier methods
- Combined oral contraception
- Progestogen-only contraception
- Progestogen-only contraception
- Depot medroxyprogesterone acetate (DMPA)
- Intrauterine devices
- Sterilisation
- Emergency contraception
Menopause
Gynaecological problems
- Menstrual problems
Menstrual suppression
- Continuous progestogens
- Oral contraceptive pill
- Injectable progestogens
- Surgery

Men’s health

Androgen deficiency
- Symptoms
- Diagnosis
- Treatment
Delayed puberty
Cryptorchidism
- Testicular surveillance
Inguinal hernia
Prostate cancer
- Symptoms
- Screening
Erectile dysfunction
Ejaculatory failure
Further reading

Advocacy

People with developmental disability as advocates
Support people as advocates
General practitioner as an advocate
- With family members and other support persons
- With government departments
- With the public hospital system

Legal issues—consent and guardianship

Decision-making for children
- What decisions can parents make?
Decision-making for adults with impaired capacity
- Can the person make their own decision?
- Who can help with decision-making?
- When is consent needed?
- Can the patient object to treatment?
- When does a substitute decision-maker need to be formally appointed?
- Who appoints a formal decision-maker for adults?
Enduring guardianships and enduring powers of attorney
Disability discrimination
Duty of care
Privacy
Legal resources

Down syndrome

Aetiology
Antenatal screening and diagnosis
- Screening
- Diagnosis
Management
- General
- Recommendations for general screenings
- Neonatal care (0 to 6 weeks)
- Infancy (6 weeks to 1 year)
- Preschool and kindergarten (1 to 5 years)
- Primary school (5 to 11 years)
- Secondary school (12 to 18 years)
- Adulthood
- Aged care
Role of the general practitioner
- Other therapies

Cerebral palsy

Aetiology
- Prenatal events
- Perinatal events
- Postnatal events
Classification
Presentation and diagnosis
- Children
- Adults
Management
- Children
- Adults
- Management of associated health problems
Health issues related to ageing
Referrals
Support for the individual and family

Autism spectrum disorders (pervasive developmental disorders)

Aetiology
Presentation
- Autistic disorder
- Asperger’s disorder
- Atypical autism (pervasive developmental disorder not otherwise specified—PDDNOS)
Diagnosis
Role of the general practitioner
Health issues
Behavioural issues
- Problem behaviours
- Early behavioural intervention
- Other interventions
Medication
Psychiatric disorders
Long-term outcomes
Referrals, services and resources

Fragile X syndrome

Aetiology
- Genetics
- Pattern of inheritance
Presentation
- Individuals with full mutation
- Individuals with premutation (fragile X syndrome carriers)
Testing
- Who should be tested for fragile X syndrome?
Management
- Counselling
- Early intervention
- Support for families
- Specific issues
- Referrals
- Educational strategies
- Maximising strengths

Prader-Willi syndrome

Aetiology
Pathology
Presentation
Diagnosis
Management of associated health problems
- Failure to thrive
- Respiratory problems
- Sleep disorders
- Short stature
- Obesity
Biopsychosocial issues
- Cognitive disabilities
- Behavioural phenotype
- Psychiatric disorders
Clinics and support associations