Adevelopmental disability is a neurological abnormality having its onset in childhood that is associated with long-term neurological and developmental deficits (for example, spastic quadriplegic cerebral palsy). Although the degree of physical and intellectual disability varies greatly, people with a severe developmental disability often have very limited mobility, are dependent on caregivers for their daily needs, and usually have several concomitant medical problems. Because of their complex health needs, consensus is growing that multidisciplinary clinics provide the optimal setting for assessment and management of patients with a developmental disability.

Life expectancy is significantly reduced in people with developmental disabilities compared with the general population.1-3 Review of the causes of death of people with a disability living in state-funded supported accommodation in New South Wales shows that respiratory disease accounts for about 40% of deaths (Kelly Savage, NSW Ombudsman, personal communication). Similar findings have been reported from Victoria and the United Kingdom.2,3

Multiple factors contribute to the increased mortality in this group. Gastro-oesophageal reflux disease is common in people with severe developmental disability,4,5 with or without intellectual disability, and is an important comorbidity in individuals with incoordinate swallowing. Respiratory disease, often secondary to recurrent aspiration, is also common and under-recognised. Malnutrition caused by reduced food intake (related to swallowing difficulties) frequently accompanies neurological impairment. Previous studies from our group6 identified profound levels of protein energy malnutrition, severe disturbance of body composition, and almost universal osteoporosis in subjects with spastic quadriplegic cerebral palsy. Seizure activity can also compromise food intake. Orthopaedic problems such as joint contractures, hip dislocation and kyphoscoliosis further contribute to limited mobility and may exacerbate lung disease. Kyphoscoliosis also poses technical challenges for surgical procedures, such as gastrostomy device insertion and fundoplication. The interrelationships of these conditions clearly require the coordinated input of several disciplines. However, there have been no clinical trials attesting to the efficacy of multidisciplinary clinics in improving patient outcomes in this group of patients.

We recently reported our experience with 452 adults and children with severe developmental disability, most of whom had cerebral palsy.7 These patients were seen at tertiary referral dysphagia–nutrition multidisciplinary clinics at Westmead Hospital and the Children’s Hospital at Westmead in NSW between 2001 and 2006. The treating teams included a developmental paediatrician–physician, paediatric gastroenterologist, clinical nurse coordinator, speech pathologist, dietitian, and paediatric physiotherapist. Patients ranged in age from 7 months to 53 years; 90% were wheelchair-dependent and 60% had epilepsy. Among other things, we found that:

• 90% of patients had dysphagia;

• three-quarters of the children and half of the adults were malnourished due to inadequate food intake;

• 60% of the total clinic population reported respiratory symptoms; and

• half of the patients undergoing upper endoscopy had reflux oesophagitis, and 66% of patients undergoing computed tomography scans of the chest had chronic suppurative lung disease.

In our series, simple interventions such as dietary advice, change of food consistencies, appropriate positioning during feeding and sleeping, use of proton-pump inhibitors, and implementation of a chest management plan were effective for many patients. However, a significant number of patients required gastrostomy with or without fundoplication for nutritional rehabilitation and to control gastro-oesophageal reflux and pulmonary aspiration.

Improving the quality of life of the person with a developmental disability is the primary goal of management. Quality of life of the patient’s family and carers is also an important consideration when formulating management plans. Studies of children with a severe level of disability suggest that gastrostomy tube insertion has a positive impact on quality of life for both the children and their caregivers.8 However, the news is not all positive. Studies of caregivers’ attitudes to health professionals indicate that the way the health system dealt with their child with a disability was seen as a significant negative factor in the carer’s quality of life.9 Caregivers describe problems such as a lack of information, communication difficulties with health professionals, and lack of experience and expertise in managing the complex health needs of patients with a disability.

Many of the medical problems described here are relatively easy to diagnose, and most respond to simple interventions, but they are often overlooked or undertreated in the general medical system. Interventions include treatment of nutrient deficiencies, management of reflux oesophagitis, saliva management, strategies to reduce episodes of aspiration pneumonia, and active management of chronic suppurative lung disease. Seizure control can also be problematic and may require regular specialist review. Coordination and provision of satisfactory health care to this population is a challenge to the health system, especially as these patients often present acutely to already overcrowded emergency departments.10 There are few specialist multidisciplinary clinical services in Australia for people with a developmental disability and complex health needs. Training opportunities in disability medicine are few outside of paediatrics, where developmental paediatrics is an essential component of paediatric training. Specific expertise and support services are often not available, and care may be significantly compromised in the adult health system. Communication barriers, lack of up-to-date medical records, difficulty doing a simple examination or routine investigations, and confusion about consent for even simple interventions all conspire to challenge the system to provide optimal care. These problems can be compounded by preconceived ideas about the quality of life of a person with a disability.

Many of the problems confronting people with a developmental disability and complex health needs, and their carers attempting to access health services, need to be addressed. Increased awareness of their needs, improved education and training of health professionals, and the development of multidisciplinary clinics and support services are basic requirements to improve their health status.