A Patient with Intellectual Disability (Id) in a Medical Consultation
General remarks
According to the ICD-10 classification of diseases provided by the WHO, mental retardation (F70-F79), or intellectual disability (ID), is a condition of arrested or incomplete development of the mind diagnosed during the person's developmental years. The diagnosis warrants an assessment of the person's intellectual skills and social adaptation before the age of 18. The need for support may vary from total care to occasional help.
Additional problems are common: neuropsychiatric symptoms (difficulties of attention, executive functions, memory, motor functions, perception), speech and language disturbances, special problems with hearing and sight, cerebral palsy, epilepsy, disturbances of mental health and behaviour, autism spectrum disorder.
Also check local guidance concerning how medical care is organized for people with ID.
Communication with a person with ID
Making the acquaintance
Making contact with the patient may be time consuming. Communication becomes easier after the trust of the patient has been gained.
Talking about a favourite hobby is often a good starting point.
Talk to the patient in a clear manner and as you would to another person of the same age - a person with an ID does not remain a child for the rest of his/her life!
Discuss one thing at a time.
History taking
Reliable history taking from a patient with ID is often difficult due to communication problems and limited understanding.
Pictures and sign language signs, for example, can be used as forms of augmentative and alternative communication. In some cases, an interpreter may be used.
Also listen carefully to the relative or person accompanying the patient.
Obtain the necessary background information from from special services for persons with intellectual disabilities and from the specialized care.
A patient with ID is often better able to use health services with the help of a relative or support person than independently.
Examination and guidance of a patient with ID
In unclear cases, a thorough physical examination is warranted.
In one case, the patient had become apathetic and the reason was found to be ingrown toenails.
In another case, an autistic boy appeared to be very distressed. His condition was not alleviated with medication, and he was found to have half of a nut lodged in his ear, the removal of which exposed a large collection of pus.
Non-urgent medical procedures may be carried out successfully after some practice (i.e. repeat visits).
Ask the patient who he/she would like to accompany him/her. If necessary, premedication may be administered before procedures, for example oral diazepam 5 to 10 mg to an adult patient. The response to benzodiazepines may be paradoxical. Find out about earlier experiences and record your own observations about drug responses.
Ensure that the patient has understood your instructions. Ask the patient to repeat in his/her own words what the instructions were. Clear written treatment instructions are given to the patient, a parent or other carer. A prescription must include clear instructions and the purpose of the medication.
Scarcity of speech or communication may lead to the underestimation of the patient's powers of understanding. All essential matters should still be explained clearly.
Give positive, appropriate and realistic feedback. It will make things easier the next time.
Involuntary care
Respect the patient's autonomy.
Sometimes holding the patient down is necessary in order to examine or treat them.
For example, if a patient who is not capable of making their own treatment decisions objects to the provision of health care, it may be possible to provide medically necessary care for them by a physician or, according to a physician's instructions, by another health professional working in the unit irrespective of the patient's objection, if leaving the patient untreated would seriously endanger their health.
Also consult the locally relevant legislation and professional guidance.
The aetiology of ID
Determining the aetiology of ID is often a big question for the client and family - discuss it. For example, a sibling planning to start a family may be a phase when the family wishes to reconsider the aetiologic investigations. A letter or phone call to a colleague in the special services for people with ID is a good starting point.
The genetic cause of ID can be identified more often than before.
Alcohol use during pregnancy causes also developmental disabilities and other permanent neuropsychiatric symptoms Fetal Alcohol Spectrum Disorders.
The cause of ID is not always detected, even with modern investigation methods, and it may be multifactorial.
There is no need to routinely follow up the blood concentrations of antiepileptic drugs, if the situation concerning seizures is stable and the medication has not been changed.
In problematic cases consult with an epilepsy specialist.
Problems with sight and hearing
Poor hearing and visual impairment are common and often go unnoticed. This may be detrimental to all attempts at rehabilitation!
The localisation of pain may be difficult, particularly in a patient with multiple disabilities and poor communication skills. Pain often manifests itself only as irritability or restlessness.
The following should also be borne in mind: hip dislocation (complete or partial), fractures, gastro-oesophageal reflux, ulcer, dental problems and sinusitis.
Risk of polypharmacy
A patient with an ID will not talk about adverse effects.
The patient may take a multitude of drugs that affect the central nervous system: antiepileptic drugs, antipsychotic drugs and many more: all medication must be carefully charted.
Drugs with central nervous system activity should only be prescribed when clearly indicated.
Assess the true need of drugs and the possibility to taper some of them.
Oral hygiene
Antipsychotic and some other drugs may dry the mouth. Effective daily cleaning of teeth is not always possible, and intensified care may be needed.
Gingivitis is common.
Nutrition
Nutritional state: undernutrition and obesity are both common. The patient may benefit from a referral to a dietitian.
Gastrointestinal tract
Gastro-oesophageal reflux and constipation (lack of exercise, antipsychotic drugs) are common.
Sialorrhoea is difficult to manage with medication. Injections of botulinum toxin into the salivary glands may improve the condition for some months.
Prevention of pregnancy
Access to intimate personal relationships, including sexual relationships, is a basic human right.
The patient is not always able, or does not have the courage, to ask about contraceptive precautions.
Comprehension of one's own capabilities as a parent may be unrealistic.
Intellectual disability is not an indication for sterilisation.
Pharmacological prevention of menstruation
If menstrual hygiene poses a problem, e.g. lynestrenol can be used for the prevention of menstruation.
Therapeutic amenorrhoea also provides means for contraception.
Assessing the overall situation
A person with an ID will need comprehensive input as regards rehabilitation and general support during everyday life. It is important to clarify the issue of overall responsibility for the patient - who, where and when? Professionals with expertise in developmental disabilities may often be of assistance.
Is the monitoring of epilepsy and other comorbidities properly arranged?
Are there orthopaedic problems? Is it possible to improve mobilisation, slow down the development of rigidity, alleviate pain or facilitate care by physiotherapy, physical aids or surgery? The patient may require an assessment by a physiotherapist or an orthopaedic surgeon.
How does the patient cope with daily activities, does he/she need physical aids? An assessment by a physiotherapist or occupational therapist may be indicated.
How well does the patient communicate, i.e. can the patient make himself/herself understood, does he/she understand others, would the patient benefit from alternative communication methods? An assessment by a speech therapist may be indicated.
What is the daily routine of the patient? A child's day care or school? Is the patient engaged in activities that take place outside the family and home surroundings?
Are there possibilities for regular exercise?
What is the patient's social life, i.e. friends, hobbies, recreational activities?
Place of employment, sheltered employment, education, further education?
What is the position of the person with an ID who lives at home within the family unit?
Does the person with an ID living alone or in group accommodation receive sufficient support?
Social services input: is the patient in receipt of all the benefits he/she is entitled to? An assessment by a social worker may be indicated.
Is the aetiology of the intellectual disability known here?
When to ask for specialist input
The input from multidisciplinary teams with expertise in the field of developmental disabilities should be sought particularly in the following situations:
when delivering initial information and support after birth
when initiating and monitoring rehabilitative measures
when choosing the type of schooling
when completing compulsory schooling, planning of further education
when choosing the type of residence, employment or daytime activity
in behavioural and mental problems
when a worsening of the functional capacity is noted.
Find out who is responsible for rehabilitation and special support for patients with ID in your area. It is important that a general practitioner, who meets patients with intellectual disability in his/her practice, is regularly updated by the specialist care services in order to know what facilities are locally available for his/her patients.
The making of service and rehabilitation plans requires not only the client but also meeting relatives, professionals close to the client, possible therapists and a multidisciplinary team. This is demanding and time-consuming, but educational and possible also remotely.
Also check further information from locally available organizations specializing in people with ID, including those dealing with rare diseases.
References
Nijhof K, Boot FH, Naaldenberg J, et al. Health support of people with intellectual disability and the crucial role of support workers. BMC Health Serv Res 2024;24(1):4 [PubMed]
Leruste S, Pouilley-Bax A, Doray B, et al. Actions to prevent and identify fetal alcohol spectrum disorders to be implemented in general practice: a consensus. Front Med (Lausanne) 2024;11:1278973 [PubMed]
Järvelä I, Määttä T, Acharya A, et al. Exome sequencing reveals predominantly de novo variants in disorders with intellectual disability (ID) in the founder population of Finland. Hum Genet 2021;140(7):1011-1029[PubMed]
Gibson RC, Bouamrane MM, Dunlop MD. Alternative and Augmentative Communication Technologies for Supporting Adults With Mild Intellectual Disabilities During Clinical Consultations: Scoping Review. JMIR Rehabil Assist Technol 2021;8(2):e19925 [PubMed]
Stringer K, Ryan BL, Terry AL, et al. Primary care of adults with severe and profound intellectual and developmental disabilities: Family physicians' perspectives on patient-physician relationships. Can Fam Physician 2019;65(Suppl 1):S59-S65[PubMed]