Gastrointestinal and nutritional problems in severe developmental disability
* Correspondence to last author at Department of Gastroenterology, The Children’s Hospital at Westmead, Locked Bag 4001, Westmead, New South Wales 2145, Australia.
The aim of this study was to describe the experience of 452 children and adults with a severe developmental disability who presented to a multidisciplinary clinic with swallowing, nutritional, and gastrointestinal problems. Data were obtained by chart review. Two hundred and ninety-four children (age range 7mo–19y, 173 males, 121 females) and 158 adults (age range 18–53y; 90 males, 68 females) were assessed over 5 years. One hundred and eighty-two children and 86 adults had cerebral palsy. Approximately 90% were wheelchair dependent and totally dependent on caregivers for feeding; 60% had epilepsy. Pulmonary aspiration was identified by oesophageal videofluoroscopy in 41% of 174 children and 47% of 34 adults. Chronic oesophagitis and Helicobacter pylori were found in 57% of 182 children and 76% of 66 adults undergoing endoscopy. Chronic suppurative lung disease was identified by computerized axial tomography in 94% of 62 children and all six adults studied. Most patients improved with simple interventions. However, gastrostomy was recommended in 140 children and performed in 91, and in 10 adults but performed in seven, whereas fundoplication was recommended in 111 children and performed in 74, and in six adults but performed in two. In conclusion, chronic oesophagitis, pulmonary aspiration, and chronic lung disease were identified in many patients with a severe developmental disability.
Gastrointestinal disease is frequent in children and adults with severe neurological impairment and developmental disability.1–3 Developmental disabilities are due to neurological abnormalities that have their onset before birth or during childhood, and are associated with significant long-term difficulties. Dysphagia due to poor coordination of swallowing can lead to reduced food intake and undernutrition,3,4 and recurrent pulmonary aspiration resulting in chronic suppurative lung disease.5,6 Gastroesophageal reflux is common.7,8 It may manifest as pulmonary aspiration resulting in chronic lung disease, or as chronic reflux oesophagitis7 sometimes causing Barrett’s oesophagus,7 and may eventually cause carcinoma of the oesophagus.9 Infection with Helicobacter pylori (H. pylori) is a common problem, particularly in patients in congregate care,10,11 and can lead to higher rates of peptic ulcer disease and gastric cancer.10,12 These problems cause significant morbidity and mortality in this group,5,6,13 with chest disease often cited as the cause of death.5,6 Moreover, quality of life is severely impaired by difficulty in swallowing, undernutrition, and recurrent chest infections. Quality of life is also affected in caregivers14–16 because of the time commitment for provision of day-to-day care, such as oral feeding, and the disruption to family life by intercurrent illness, hospitalization, and non-participation in normal daily activities. These factors require consideration when deciding on therapeutic interventions.
The aim of this study was to describe clinical experience in the first 452 patients seen in multidisciplinary clinics based at a tertiary-level adult and children’s hospital. These clinics were established to manage swallowing, gastrointestinal, and nutritional problems in patients with a severe developmental disability. Parameters of interest were the underlying cause of developmental disability, problems at presentation to clinic, investigations, and surgical interventions.
Children 18 years or younger were assessed at The Children’s Hospital at Westmead, a tertiary referral children’s hospital. All paediatric patients were seen by a paediatric gastroenterologist (EVO’L) and a developmental paediatrician (HS), speech pathologist, dietician, physiotherapist, and nurse coordinator. Patients over 18 years were seen at a tertiary referral adult hospital by clinicians including a developmental physician (HS), speech pathologist, dietician, and nurse coordinator. Ethics approval for chart review and data extraction was provided by The Children’s Hospital at Westmead Ethics Committee.
Information relating to diagnoses, medical problems, previous surgery, and medical therapy was obtained from referring physicians and involved clinicians including nursing staff, speech pathologists, and dieticians (from government and non-government agencies), and hospital medical records. A questionnaire seeking detailed information about feeding was posted to parents and caregivers. Patients were booked into the clinic after the questionnaire was returned. Patients were assessed in the clinics with either parent(s) or caregiver, and occasionally the treating speech pathologist, in attendance. A multidisciplinary assessment was performed at the clinic including a detailed medical history. The patient’s nutritional status was assessed by the clinic dietician using a variety of methods including weight and height (frequently derived from lower-leg measurements22), serial weights, and skinfold thickness in some patients. The assessment of nutritional status is difficult in patients with cerebral palsy (CP) and other chromosomal and genetic disorders because of the difficulty of obtaining accurate height measurements and the lack of centile charts. Therefore, we categorized patients as normally nourished or undernourished. Undernourished was defined as failure to gain weight resulting in a falling weight centile, weight loss, a discrepancy between weight and measured or calculated height centile in a child, or unintentional weight loss in an adult patient. Dysphagia was defined as difficulty in swallowing manifested as coughing, spluttering, or choking during eating/drinking, aversion to eating, or excessive time to eat a meal (longer than 30min). Respiratory disease was defined as two or more episodes of respiratory infection requiring antibiotic therapy and/or admission to hospital for treatment of pneumonia or recurrent wheezing requiring bronchodilators. Gastroesophageal reflux included a history of frequent regurgitation or vomiting, pain behaviour such as neck arching, frequent nighttime waking, or proven gastroesophageal reflux disease (GORD).
Investigations including oesophageal videofluoroscopy (modified barium swallow), high-resolution computed tomography (CT) of the chest, and upper gastrointestinal endoscopy (UGE) were performed as clinically indicated rather than as routine investigations owing to the difficulties in performing these tests in patients with a developmental disability. CT of the chest and UGE were performed under general anaesthetic in all children and most adult patients. CT diagnoses of bronchiectasis or chronic inflammatory changes were established by experienced radiologists. Oesophagitis and Barrett’s oesophagus were established by endoscopic appearance supported by histopathological examination of mucosal biopsies. Patients were not routinely screened for H. pylori gastritis; rather, biopsies were taken if the gastric mucosa appeared abnormal (nodular gastritis) and the bacteria were identified by rapid bedside testing of mucosal biopsies (CLOtest, Ballard Medical Products, GA, USA) and histopathology.
A management plan was formulated after initial assessment and investigations. This included nutritional advice, adjustment of feeding with alterations in food and fluid intake, safe feeding techniques and appropriate food consistency, and information on salivary control and oral hygiene. Positioning and seating was adjusted where appropriate and advice on physical therapy for chest management provided. Appropriate medical therapy for reflux oesophagitis, H. pylori, and chronic suppurative lung disease was prescribed when indicated. Decisions about gastrostomy insertion and/or fundoplication were based on the degree of feeding difficulty, the severity of undernutrition, and the presence of GORD and/or chronic suppurative lung disease.
Two hundred and ninety-four patients were seen between January 2000 and December 2005. Two hundred and fifty-eight (88%) were wheelchair dependent, and 271 (92%) were totally dependent on their caregivers for feeding. One hundred and seventy-six had epilepsy (60%).
Table I describes the clinical and laboratory diagnoses. One hundred and eighty-two patients (62%) had spastic quadriplegic CP. Syndromic diagnoses were established in 25 patients (Rett syndrome [n=3], velocardiofacial syndrome [n=3], Cornelia de Lange syndrome [n=2], cri du chat syndrome [n=2], Angelman syndrome [n=2], and different clinical diagnoses [n=13]) and suspected in a further two. Eighteen patients had chromosomal abnormalities (10 with chromosomal deletions or translocations, six with Down syndrome, and one each with XXX and trisomy 18). Thirteen patients had neurodegenerative disorders (seven unclassified, two with Batten’s disease, and one each with spinocerebellar degeneration, neuraxonal dysplasia, Machado-Joseph disease, and Huntington’s disease). Nine patients had inherited disorders including neurofibromatosis (n=2), Niemann Pick disease (n=1), Sanfilipo disease (n=1), and suspected mitochondrial disorders (n=5) that could not be confirmed by laboratory testing. Seven patients had congenital infections (six with cytomegalovirus and one with toxoplasmosis). Three patients had autism with severe developmental delay, and 35 patients had global developmental delay without a specific diagnosis.
Table I. Clinical and laboratory diagnoses of children and adults with severe developmental disability and gastrointestinal and nutritional problems (n=452)
Table II shows presenting problems leading to referral to the clinic. Many patients had more than one clinical problem. Most (92%) had dysphagia, 72% had failure to thrive or short stature, 67% a current or past history of gastroesophageal reflux (40 of whom had experienced haematemesis), and 65% had a history of recurrent respiratory infections or chronic suppurative lung disease.
Table II. Presenting gastrointestinal and nutritional problems in children and adults with severe developmental disability (n=452)
Table III shows the results of investigations. Oesophageal videofluoroscopy was performed in 174 patients, of whom 41% had tracheal aspiration observed during the study. Sixty-two patients had a high-resolution CT of the chest, of whom 68% had established bronchiectasis and 26% had inflammatory changes consistent with chronic bronchitis. Only 4 out of 62 CT scans were normal.
Table III. Results of investigations
| Inflammatory changes||16||1|
| Barrett’s oesophagus||14||5|
| H. pylori||22||24|
UGE was performed in 182 patients (62% of the paediatric clinic population). Abnormalities were detected in 57% of those undergoing UGE, including oesophagitis (45%), Barrett’s oesophagus (8%), and H. pylori gastritis (12%).
One hundred and fifty-eight adult patients were assessed. One hundred and twenty-eight (81%) were wheelchair dependent, and 132 (84%) totally dependent on their caregivers for feeding. Eighty-nine patients (56%) had epilepsy.
Table I gives clinical and laboratory diagnoses. Eighty-six patients (54%) had spastic quadriplegic CP. Twelve patients had genetic syndromes (six with Rett syndrome and the remainder with different clinical diagnoses). Twelve patients had chromosomal abnormalities (seven with Down syndrome and five with chromosomal deletions/translocation). Five patients had neurodegenerative disorders (four unclassified and one with Duchenne muscular dystrophy). Four patients had inherited disorders (three tuberous sclerosis and one an unconfirmed mitochondrial cytopathy). Six patients had congenital infections, five rubella, and one cytomegalovirus. Two patients had autism with severe intellectual disability, and 31 patients had severe intellectual disability without a specific diagnosis.
Dysphagia was the presenting problem in 74% (Table II), weight loss or malnutrition in 48%, a history of gastroesophageal reflux in 43% (18 with haematemesis), and respiratory symptoms in 38%. Most patients had more than one presenting problem.
Oesophageal videofluoroscopy was performed in 34 patients (Table III). Sixteen (47%) had tracheal aspiration. Six patients had a high-resolution CT of the chest, five with bronchiectasis, and one with chronic inflammatory changes consistent with chronic bronchitis. UGE was performed in 66 patients (42% of the adult patients). Abnormalities were detected in 76% of those undergoing UGE and included oesophagitis in 36%, Barrett’s oesophagus in 8%, and H. pylori gastritis in 36%.
The management approach was similar in paediatric and adult patients. Conservative management was attempted in most, with the aim of increasing dietary intake with food consistencies least likely to aggravate dysphagia and aspiration with swallowing. Mild peptic oesophagitis was treated with proton pump inhibitors only. Patients were followed-up on a regular basis to monitor symptoms and weight gain. This approach was successful in most. However, gastrostomy was recommended because of failure to gain weight or severe dysphagia and/or presumed aspiration in 140 (48%) paediatric patients and performed in 91; it was recommended in 10 adult patients (6%) but performed in seven. Fundoplication was recommended to control severe gastroesophageal reflux disease and prevent reflux and pulmonary aspiration in 111 (38%) paediatric patients and performed in 74, and recommended in 6 (4%) adults but performed in only two. Some patients had both procedures performed. Failure to follow recommendations was largely due to issues of caregiver consent.
Patients reported in this series were severely physically and intellectually disabled. Most of our patients were totally dependent on a wheelchair for mobility and their caregivers for feeding and most other activities of daily living. More than half had a history of epilepsy. Although the high rate of dysphagia and malnutrition is to be expected in such a clinic, we identified many patients with proven pulmonary aspiration, chronic lung disease, and gastroesophageal reflux disease. Data for adults were also included in this study as there is a growing population of adults with a severe developmental disability, a minority group with limited access to health services. Comparison with the paediatric data demonstrates a similar range of aetiologies and complications.
The causes of developmental disability include preterm birth and other perinatal insults, genetic syndromes, as well as chromosomal and inherited disorders. The patient mix in our clinic population is similar to other series.3,12,13 Spastic quadriplegic CP, which represents the severe end of the CP spectrum, was the major diagnostic group. Genetic syndromes and chromosomal abnormalities were the next largest group. Several genetic disorders such as Rett syndrome,17 velocardiofacial syndrome,18 and Cornelia de Lange syndrome,19 and degenerative neuromuscular disorders such as muscular dystrophies20 and mitochondrial cytopathies,21 are well recognized as having major problems with gastrointestinal motility. Moreover, major chromosomal rearrangements such as trisomy 18 and chromosomal translocations cause major malformations to the central nervous system, leading to severe neurological complications which can impact on gastrointestinal motor function.
Dysphagia leads to poor dietary intake and under-nutrition, which was reported as a major reason for referral. Malnutrition is well described in patients with CP,4,6 and detailed body composition studies from our own paediatric clinic22 indicate that many patients have severe malnutrition and deranged body composition including osteopenia and osteoporosis. The latter is of ongoing concern because of the increased risk of fractures in this group. Assessment of nutritional status in patients with genetic syndromes, chromosomal abnormalities, and congenital infections is difficult as short stature is usually associated with these conditions and the usual paediatric growth charts are not applicable. Nevertheless, nutritional problems were also common among these groups.
Symptoms of upper gastrointestinal disease were common in our patients. When investigated further a high percentage had gastroesophageal reflux disease (reflux oesophagitis and/or Barrett’s oesophagus). Gastroesophageal reflux disease is an important problem in this group of patients as it can cause severe symptoms and is often unrecognized or misdiagnosed (seizures or movement or behavioural disorder). It is relatively easy to treat, but if untreated it can exacerbate pulmonary aspiration and chronic lung disease.7,9 Gastroesophageal reflux disease may also be exacerbated by insertion of gastrostomy devices,23 so the reflux may need surgical correction at the time of or after gastrostomy insertion. Infection with H. pylori was identified at endoscopy in 12% of children and 36% of adults, which is probably an underestimate as we did not routinely screen for it. Screening for this infection is not routine in our clinic because of the difficulties in administering therapy, establishing eradication, and the controversies surrounding screening in the normal population. We did not identify any patient with peptic ulcer disease.
Respiratory symptoms were reported in 56% of the total clinic population and, when investigated further, approximately half of those studied had proven aspiration on barium swallow and almost all had chronic changes including bronchiectasis on chest CT (when performed). Patients identified with chronic suppurative lung disease had a chest management plan that included immunizations (influenza and pneumococcal), physical therapy and treatment, and/or prophylaxis of bronchitis/pneumonia. The presence of chronic lung disease influenced decisions about gastrostomy insertion and the need for fundoplication.
Although many patients aspirate with eating, gastroesophageal reflux almost certainly is an exacerbating if not causative factor in some. Unfortunately, there is no criterion-standard test for the diagnosis of reflux and aspiration, so diagnosis is often based on clinical presentation and supporting information such as presence of chronic oesophagitis or bronchiectasis. Recognizing complications of reflux is important in patients with a developmental disability as this helps inform the decisions about gastrostomy insertion and surgical correction of reflux. However, the rate of proven gastroesophageal reflux disease and chronic lung disease reported in this study is likely to be an underestimation of the true incidence of these problems, as the investigations were undertaken for clinical indications and consent was refused in some patients.
More than half the children and most of the adult patients had their feeding problems managed conservatively with dietician input and changes to the consistencies of solid and liquid intake. However, feeding and nutritional problems were considered severe enough to warrant gastrostomy insertion in approximately 50% of the children and about 5% of the adults. Artificial feeding is advocated in patients with a developmental disability and severe nutritional/growth problems as it has been shown to restore linear growth, normalize weight, improve health and quality of life, and decrease frequency of hospitalizations.24 Pulmonary aspiration and/or gastroesophageal reflux disease warranted antireflux surgery in a smaller but still substantial proportion of children (approximately 40%) and a much smaller proportion of adults (5%). It is unlikely that the different rates of surgical intervention between adult and paediatric clinics is due to a different approach as the key personnel worked in both clinics. Rather, it is likely that the cohort of paediatric patients was more severely affected, with many not reaching adult life as the life expectancy of children with a severe physical or intellectual disability is relatively short.13
Obtaining consent for investigation and treatment, particularly surgical intervention, was often problematic. In the paediatric population, more than one-third rejected the offer of gastrostomy. The cultural and societal importance of sharing a meal is an important consideration when caregivers, particularly relatives, decide whether to institute artificial feeding regimes. Indeed, this factor has been voiced by a large group of caregivers as being a major impediment to insertion of a gastrostomy device and artificial feeding.25
In summary, patients with a developmental disability attending a clinic for feeding and nutritional problems exhibit high rates of poor oral intake, malnutrition, and upper gastrointestinal problems, such as gastro-oesophageal reflux, leading to chronic oesophagitis and suppurative lung disease. These health problems cause significant morbidity and can have a major impact on the quality of life of the patients and their caregivers. Moreover, chronic undernutrition or malnutrition can be reversed or prevented by artificial feeding techniques such as gastrostomy feeds. Gastroesophageal reflux disease can be cured or ameliorated by aggressive therapy such as antireflux surgery. Although no controlled trial of such therapies has been performed in this population, preliminary reports indicate that simple measures such as gastrostomy insertion do have a major impact on the quality of life of both patient and caregiver.14,15,26