The dictionary definition of ‘diagnosis’—the identification of a disease by means of a patient’s symptoms—may be one of the reasons why many parents have a negative experience when it comes to the diagnosis of an intellectual disability in their child. This crude form of medical labelling marks a person with an intellectual disability from the very beginning, and throughout their lifespan. Diagnosis is all about the process of establishing the nature of a disorder by considering the person’s signs and symptoms, medical background—and, when necessary, the results of laboratory tests and x-ray examinations.
The diagnosis of an intellectual disability may be given before birth, at birth or in early childhood. (For a small number of individuals with an intellectual disability, no clear diagnosis can ever be given at any stage.) The diagnosis of a specific intellectual disability can assist professionals to work holistically with those affected. It allows them to develop a partnership with parents/carers, and to plan appropriate person-centred care, taking into consideration any specific health-related issues that may impact upon the individual’s daily and future life.
Diagnosis before birth
Most parents have no evidence that their child will have an intellectual disability before his/her birth. A small number of parents have definite advance warning from screening investigations such as blood tests, ultrasound scans, and other diagnostic investigations such as amniocentesis and chorionic-villi sampling. Diagnosis at this stage is undertaken because there is a perceived high risk of disability. The prenatal diagnosis of disability raises complex emotional and ethical issues, and the prospective parent must be able to access full information and sensitive, respectful counselling as they consider the possibilities of therapeutic termination, stillbirth, full-term delivery, etc.
Diagnosis at birth
Unless a definite physical abnormality or characteristic is evident, or in the event of a traumatic delivery, intellectual disability is not usually diagnosed at the time of birth. The exactness of a diagnosis can vary from the confirmation of a specific condition like Down Syndrome, owing to its clear characteristics, to a much broader diagnosis of intellectual disability where no specific characteristics are identifiable. A clear diagnosis may somewhat reduce uncertainty about the prognosis of the child’s future development, and provide parents with an early guide to effective interactions/interventions.
Recent genetic studies, and the Human Genome Project, may lead in the future to quicker and more concise diagnoses of disability, both before and at birth. However, the actual level/degree of intellectual disability cannot be predicted with accuracy.
Diagnosis in early childhood
Intellectual disability is most often diagnosed in early childhood, when a child fails to reach normal developmental milestones. Parents, especially mothers, are usually the first to suspect that a problem exists. Many parents get the feeling that they have been ‘fobbed off’ by professionals at this stage, and they may feel they are being labelled overanxious or overprotective (Leonard 1994). By investigating suspected problems in the developmental milestones, certain intellectual disabilities can be identified and a definite diagnosis given, based on a chromosome/gene abnormality or the presence/absence of markers in overall health.
In the case of autistic spectrum disorders, although there are many diagnostic methods available, the absence of definitive ‘proof’ of the condition continues to bedevil the process. It can be very easy to ‘label’ the condition, while being very difficult to describe the overall degree of disability.
While the diagnosis of intellectual disability in a child is always traumatic, it is an important marker. Parents report that having a name for the difficulties which hinder the child’s development process helps to validate their own experiences and observations. Stehli (1995) reported that the diagnosis gives a passport for the family to a community of other families in the same situation who are an immediate source of parental expertise, support and advice.
Parents always remember how the diagnosis of their child’s intellectual disability was given to them—sensitively, casually, frankly or in a cursory manner. From the initial contact, and throughout all further consultations, professionals must recognise, listen and respond to parents’ concerns. While parents cannot expect professionals to have all the answers, they are heartened by honest answers that admit any limitations or uncertainties, and they rightly expect to receive all available information, and the chance to work in a partnership that respects their emotions and their parental expertise.