Role of the Physical Therapist in Cystic Fibrosis Care.

In looking back on 2020 and 2021, this Perspective reflects on the monumental impacts of the rollout of cystic fibrosis (CF) transmembrane conductance regulator highly effective modulator therapies and the COVID-19 pandemic on the management of CF. Advancements in the clinical management of people with CF have been both enormous and rapid, and physical therapists specializing in the care of people with CF have been at the forefront of driving this evolution in care. This year sees the 30th anniversary of the UK Association of Chartered Physiotherapists in Cystic Fibrosis and, as is inevitable in reaching such milestones, thoughts have turned to origins, role, impacts, and the future. With the changing demographics of the population of people with CF after the introduction of highly effective modulator therapies, potentially with fewer secondary complications, the future role of the physical therapist who specializes in CF is in question. This Perspective reflects on and highlights the role of physical therapy within CF and provides insights into how physical therapists and respiratory therapists can evolve their roles to ensure relevance for the future.

Cystic fibrosis newborn screening: outcome of infants with normal sweat tests.

Newborn babies positively screened for cystic fibrosis (CF) (high serum immunoreactive trypsin (IRT) with DNA analysis) are referred for a diagnostic sweat test, which may be normal (sweat chloride <30 mmol/L). Unless two gene mutations are identified during Newborn screening (NBS), the babies are discharged from follow-up. We wished to check that none had subsequently developed symptoms suggestive of CF. We retrospectively reviewed patient notes and contacted general practitioners of all babies with a negative sweat test, conducted in one of the four paediatric specialist CF centres in London, over the first 6 years of screening in South East England.Of 511 babies referred, 95 (19%) had a normal sweat test. Five (5%) had CF diagnosed genetically, two of them on extended genome sequencing after clinical suspicion. Eleven (12%) were designated as CF screen positive inconclusive diagnosis (CFSPID); one of the five CF children was originally designated as CFSPID. Seventy-nine (83%) were assumed to be false-positive cases and discharged; follow-up data were available for 51/79 (65%); 32/51 (63%) had no health issues, 19/51 (37%) had other significant non-CF pathology.These results are reassuring in that within the limitations of those lost to follow-up, CF symptoms have not emerged in the discharged children. The high non-CF morbidity in these children may relate to known causes of high IRT at birth. Clinicians need to be aware that a child can have CF despite a normal sweat test following NBS, and if symptoms suggest the diagnosis, further testing, including extended genome sequencing, is required.

The impact of switching to the new global lung function initiative equations on spirometry results in the UK CF registry.

BACKGROUND: The Quanjer et al. Global Lung Function Initiative (GLI)-2012 multi-ethnic all-age reference equations for spirometry are endorsed by all major respiratory societies and are the new gold standard. Before the GLI equations are implemented for use in CF patients, the impact of changing equations from those currently used needs to be better understood. METHODS: Annual review data submitted to the UK CF Trust Registry between 2007 and 2011 were used to calculate %predicted FEV1, FVC and FEV1/FVC using three widely used reference equations (Wang-Hankinson and Knudson) and the new GLI-2012 equations. RESULTS: Overall, Knudson and Wang equations overestimated %predicted values in paediatric patients, such that a greater proportion of patients had lung function values in the normal range. Within individual patients, the impact of switching equations varied greatly depending on the patients' age, and which equations were used. CONCLUSIONS: A unified approach to interpreting spirometric lung function measurements would help facilitate more appropriate comparison both within and between centres and countries. Interpretation of longitudinal measurements using a continuous reference equation across all-ages, like the GLI, may further improve our understanding of CF lung disease.

Positive parental attitudes to participating in research involving newborn screened infants with CF.

BACKGROUND: Information regarding recruitment of infants to research studies following the diagnosis of cystic fibrosis (CF) via newborn screening (NBS) is not currently available. This study aimed to assess parental attitudes and the feasibility of recruiting and retaining both NBS infants with CF and healthy control infants to a longitudinal, observational study. METHODS: All infants underwent pulmonary function tests (PFTs) at ~3 and ~12months of age. Infants with CF had additional combined chest high resolution computed tomography (HRCT), bronchoscopy and broncho-alveolar lavage (BAL) at ~12months of age. Parental attitude questionnaires (PAQs) were administered to all parents following the ~3month PFTs and to parents of infants with CF after completion of all tests at ~12months. RESULTS: 86% (92/107) of families whose infant had CF consented to participate, of whom 92% had PFTs at ~3months of age with 99% of these having PFTs at ~12months of age. Recruitment of healthy controls was feasible but more challenging; 29% of those contacted agreed to participate; 73% of these had PFTs at ~3months of age; of whom 83% had repeated PFTs at ~12months of age. Completed PAQs were received from 71% of parents, (both of CF and healthy infants) at ~3months and from 58% parents of infants with CF at ~12months. Responses from the PAQs were generally positive, 95% of parents indicated they would recommend participation in such studies to other families. Discrepancies between responses at 3 and 12months suggested that parental understanding of what the research entailed developed during the course of the study. CONCLUSIONS: The high recruitment and retention rates for newly diagnosed CF NBS infants to this observational study are encouraging. These findings will help inform future study design both in the field of CF and other conditions diagnosed by NBS.