Safety and caregiver satisfaction with gastrostomy in patients with Ataxia Telangiectasia

Abstract

BackgroundAtaxia Telangiectasia (A-T) is a rare monogenetic neurodegenerative disease with pulmonary, nutritional, and dysphagic complications. Gastrostomy tube (GT) feedings are commonly recommended to manage these co-morbidities. In general, outcomes of GT placement in patients with progressive diseases that develop during childhood are not well characterized. The primary purposes of this study were to determine whether GT placement in patients with A-T would be tolerated and associated with caregiver satisfaction.MethodsWe completed a retrospective review of 175 patients who visited the A-T Children's Center at Johns Hopkins Hospital from 2001 through 2008, and identified 28 patients with A-T (19 males, 9 females) who underwent GT placement for non-palliative reasons. Information was obtained from medical records, interviews with primary health care providers, and 24 (83%) caregivers of patients with GT's who responded to survey requests.ResultsTwenty-five (89%) patients tolerated GT placement and were a median of 5.0 (0.4-12.6) years post GT placement at the time of this investigation. Three (11%) patients died within one month of GT placement. In comparison to patients who tolerated GT placement, patients with early mortality were older when GT's were placed (median 24.9 vs. 12.3 years, p = 0.006) and had developed a combination of dysphagia, nutritional, and respiratory problems. Caregivers of patients tolerating GT placement reported significant improvements in mealtime satisfaction and participation in daily activities.ConclusionsGT placement can be well tolerated and associated with easier mealtimes in patients with A-T when feeding tubes are placed at young ages. Patients with childhood onset of disorders with predictable progression of the disease process and impaired swallowing may benefit from early versus late placement of feeding tubes.

ERS statement on the multidisciplinary respiratory management of ataxia telangiectasia

“…Gastrostomy may be required to improve the quality and quantity of nutrition, reduce aspiration-related risks and improve the quality of life related to mealtimes in people with A-T [70].…”

“…Ongoing concerns regarding aspiration and/or adequacy of nutrition should prompt referral for gastrostomy insertion. In the LEFTON-GREIF et al [70] series, 16% of patients underwent gastrostomy placement for nonpalliative reasons. This retrospective study demonstrated that safe gastrostomy placement and caregiver satisfaction (easier mealtimes) can be achieved when patients with A-T have feeding tubes placed at younger ages.…”

“…While it is difficult to define the optimal age for gastrostomy placement, significant progressive decline in weight, length and BMI z-scores appears to start from the age of 8 years onwards (E. Stewart et al; personal communication). Patients with childhood onset of disease with predictable progression and impaired swallowing may benefit from early rather than late placement of a feeding tube [70]. Even though a significant increase in weight or BMI z-score may not be seen following gastrostomy insertion in A-T and other static or progressive severe neurological disorders, an almost universal improvement in health-related quality of life scores is reported [70,76].…”

Ataxia telangiectasia: why should the ERS care?

“…While it is difficult to define the optimal age for gastrostomy placement, significant progressive decline in weight, length and body mass index (BMI) z-scores appears to start from the of age 8 years (E. Stewart, et al, Nottingham Children's Hospital, UK Paediatric National Clinic, Nottingham University Hospitals, NHS Trust, Nottingham, UK; personal communication). Even though a significant increase in weight or BMI z-score may not be seen post-gastrostomy insertion in A-T, an almost universal improvement in health-related quality of life scores is reported [19]. In addition, delayed insertion of a gastrostomy is more likely to be associated with worse outcomes [19].…”

“…Even though a significant increase in weight or BMI z-score may not be seen post-gastrostomy insertion in A-T, an almost universal improvement in health-related quality of life scores is reported [19]. In addition, delayed insertion of a gastrostomy is more likely to be associated with worse outcomes [19].…”