Feeding and Swallowing Problems in Infants with Spinal Muscular Atrophy Type 1: an Observational Study.

BACKGROUND: Infantile hereditary proximal spinal muscular atrophy (SMA) type 1 is characterized by onset in the first 6 months of life and severe and progressive muscle weakness. Dysphagia is a common complication but has not been studied in detail. OBJECTIVE: To study feeding and swallowing problems in infants with SMA type 1, and to explore the relation between these problems and functional motor scores. METHODS: We prospectively included 16 infants with SMA type 1 between September 2016 and October 2018. Eleven infants received palliative care and five infants best supportive care in combination with nusinersen. We compiled and used an observation list with feeding related issues and observed feeding sessions during inpatient and outpatient visits. The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) was used as a measure of motor function. RESULTS: All infants in the palliative care group (median onset of disease 14 days (range 1-56); median inclusion in the study 52 days (range 16-252) demonstrated symptoms of fatigue during feeding and unsafe swallowing. Symptoms were short nursing sessions (10-15 minutes), and not being able to finish the recommended feeding volumes (72%); increased frequency of feeding sessions (55%); coughing when drinking or eating (91%), and wet breathing during and after feeding (64%).Two out of five infants in the nusinersen group (median onset of disease 38 days (range 21-90); inclusion in the study at 63 days (range 3-218) were clinically pre-symptomatic at the start of treatment. The other three infants showed symptoms of fatigue and unsafe swallowing at inclusion in the study. These symptoms initially decreased after the start of the treatment, but (re)appeared in all five infants between the ages of 8 to 12 months, requiring the start tube of feeding. In the same period motor function scores significantly improved (median increase CHOP INTEND 16 points). CONCLUSION: Impaired feeding and swallowing remain important complications in infants with SMA type 1 after the start of nusinersen. Improvement of motor function does not imply similar gains in bulbar function.

Muscle strength and motor function throughout life in a cross-sectional cohort of 180 patients with spinal muscular atrophy types 1c-4.

BACKGROUND AND PURPOSE: Natural history studies in spinal muscular atrophy (SMA) have primarily focused on infants and children. Natural history studies encompassing all age groups and SMA types are important for the interpretation of treatment effects of recently introduced survival motor neuron gene-augmenting therapies. METHODS: We conducted a cross-sectional study to investigate muscle strength, Hammersmith Functional Motor Scale (Expanded) score and the patterns of muscle weakness in relation to age and SMA type. RESULTS: We included 180 patients with SMA types 1-4 in the age range 1-77.5 years with median disease duration of 18 (range 0-65.8) years. With the exception of the early phases of disease in which children with SMA types 2 and 3 may achieve new motor skills and show a temporary increase in muscle strength, cross-sectional data suggested that declining muscle strength and loss of motor skills over time are characteristic of all SMA types. Mean loss of strength was at least 1 point on the Medical Research Council score and 0.5 point on the Hammersmith Functional Motor Scale (Expanded) score per year. Trend lines compatible with deterioration of motor function and muscle strength started in childhood and continued into adulthood. The age at loss of specific motor skills was associated with disease severity. Triceps, deltoid, iliopsoas and quadriceps were the weakest muscles in all patients. Hierarchical cluster analysis did not show a segmental distribution of muscle weakness as suggested previously. CONCLUSIONS: Progressive muscle weakness and loss of motor function are characteristic of all SMA types and all ages.

Reproducibility of energy cost of locomotion in ambulatory children with spina bifida.

OBJECTIVES: Many ambulatory children with Spina Bifida (SB) experience functional decline in ambulation despite stable or even improving motor exams. Improving or maintaining low energy cost of locomotion during childhood and throughout the teenage years, could be an important goal for children and adolescents with SB. Purpose of this study was to determine reproducibility of energy expenditure measures during gait in ambulatory children with SB. DESIGN: Reproducibility study. SETTING: Child Development and Exercise Center of the University Children's Hospital in Utrecht, the Netherlands. PARTICIPANTS: Fourteen ambulatory children (6 boys/8 girls) with SB. Mean age was 10.8 years (+ or - 3.4). INTERVENTIONS: Net and gross energy expenditure measures during locomotion were determined during a six-minute walking test. These measures consisted of energy consumption (ECS), expressed in J/kg/min, and energy cost (EC), expressed in J/kg/m. For reliability, the intra-class coefficient (ICC) was determined. For agreement, the smallest detectable difference (SDD) was calculated. RESULTS: ICCs vary from 0.86 to 0.96 for both EC and ECS. The SDD ranges from 18-24% for gross measures, up to over 30% for net values. CONCLUSION: Reproducibility of energy expenditure during ambulation in children with SB should be considered carefully when using these measures in the evaluation of gait. High reliability of energy expenditure measurements makes these measurements appropriate to use as discriminative tools in children with SB, while agreement of only gross EC seems acceptable to use as a evaluative tool in children with SB. Overall, measures of reliability and agreement seem higher in young children when compared to adolescents. Further research is recommended to determine clinically relevant changes in energy expenditure in children with SB.

Limiting factors in peak oxygen uptake and the relationship with functional ambulation in ambulating children with spina bifida.

The objective of this study is to interpret the outcomes of peak oxygen uptake (VO(2peak)) in children with SB and explore the relationship between VO(2peak) and functional ambulation using retrospective cross-sectional study. Twenty-three ambulating children with SB participated at Wilhelmina's Children's Hospital Utrecht, the Netherlands. VO(2peak) was measured during a graded treadmill-test. Eschenbacher's and Maninna's algorithm was used to determine limiting factors in reaching low VO(2peak) values. Energy expenditure during locomotion (both O(2) rate and O(2) cost) and percentage of VO(2peak) and HR(peak) were determined during a 6-min walking test (6MWT). Differences between community and normal ambulators were analyzed. VO(2peak), VO(2peak)/kg, HR(peak), RER(peak) and VE (peak) were significantly lower compared to reference values, with significant differences between normal and community ambulators. Limiting factors according to the algorithm were mostly "muscular and/or deconditioning" (47%) and ventilatory "gasexchange" (35%). Distance walked during 6MWT was 48.5% of predicted distance. Both O(2) rate and O(2) cost were high with significant differences between normal and community ambulators [17.6 vs. 21.9 ml/(kg min) and 0.27 vs 0.43 ml/(kg m)]. Also %HR(peak) and %VO(2peak) were significantly higher in community ambulators when compared to normal ambulators (resp. 97.6 vs. 75% and 90.2 vs. 55.9%). VO(2peak) seems to be mostly limited by deconditioning and/or muscular components and possible ventilatory factors. For both peak values and functional ambulation, community ambulators were significantly more impaired than normal ambulators. High energy expenditure, %VO(2peak) and %HR(peak) reflect high level of strain during ambulation in the community ambulators. Future exercise testing in children with SB should include assessment of ventilatory reserve. Exercise training in ambulatory children should focus on increasing both VO(2peak) and muscular endurance, as well as decreasing energy cost of locomotion.

Determinants of functional independence and quality of life in children with spina bifida.

OBJECTIVE: To investigate determinants of functional independence and study which functional abilities were determinants for 'health-related quality of life' in children with myelomeningocele. DESIGN: Cross-sectional study by means of clinical assessment, 'disability' measurement and questionnaires. Uni- and multivariate logistic regression models were used to investigate factors that were determinants for these outcomes. Results were expressed as odds ratios (OR) and 95% confidence intervals (95% CI). SETTING: Outpatient spina bifida clinic at a university hospital. SUBJECTS: One hundred and twenty-two children with myelomeningocele. Mean age 7.9; range 1-18 years. MAIN MEASURES: Functional independence as measured by the Pediatric Evaluation of Disability Inventory (PEDI), and quality of life as measured by the Spina Bifida Health Related Quality of Life Questionnaire. RESULTS: Lesion level below L3 (OR 0.4, 95% CI 0.1-1.0), mental status of IQ > or =80 (OR 4.2, 95% CI 1.2-14.9), having no contractures in lower extremities (OR 3.4, 95% CI 1.3-8.8), and having normal strength of knee extensor muscles (OR 4.1, 95% CI 1.4-11.5) were most strongly associated with independence in self-care. Mental status (OR 16.1, 95% CI 2.8-93.9), having no contractures in lower extremities (OR 1.5, 95% CI 1.4-5.3), and normal strength in knee extensors (OR 11.0, 95% CI 1.3-97.0) were the most important determinants for independence in mobility. Concerning functional abilities, being independent with regard to mobility was the most important determinant for 'health-related quality of life' (OR 5.3, 95% CI 1.6-17.4). CONCLUSIONS: In children with myelomeningocele, good muscle strength, mental ability and being independent in mobility appeared to be much more important for daily life function and quality of life than other medical indicators of the disorder.

Spinal fusion in children with spina bifida: influence on ambulation level and functional abilities.

The aim of this study was to determine the influence of spinal fusion on ambulation and functional abilities in children with spina bifida for whom early mobilization was stimulated. Ten children (three males and seven females) with myelomeningocele were prospectively followed. Their mean age at operation was 9.3 years (standard deviation (SD): 2.4). Spinal curvature was measured according to Cobb. Pelvic obliquity and trunk decompensation were measured as well. The ambulation level was scored according to Hoffer, and functional abilities, as well as the amount of caregiver assistance, were documented using the Pediatric Evaluation of Disability Inventory. All patients were assessed before surgery and three times after surgery, with a total follow-up duration of 18 months after surgery. After spinal fusion, magnitude of primary curvature decreased significantly (p=0.002). Pelvic obliquity and trunk decompensation did not change. In spite of less immobilization as compared with other reported experiences, ambulation became difficult in three out of four patients who had been able to ambulate prior to surgery. Functional abilities and amount of caregiver assistance concerning self-care (especially regarding dressing upper and lower body, and self-catheterization) and mobility (especially regarding transfers) showed a nonsignificant trend to deterioration within the first 6 months after surgery, but recovered afterwards. From pre-surgery to 18 months after surgery, functional skills on self-care showed borderline improvement (p=0.07), whereas mobility did not (p=0.2). Mean scores on caregiver assistance improved significantly on self-care (p=0.03), and borderline on mobility (p=0.06), meaning that less caregiver assistance was needed compared with pre-surgery. The complication rate was high (80%). In conclusion, within the first 6 months after spinal fusion, more caregiver assistance is needed in self-care and mobility. It takes about 12 months to recover to pre-surgery level, while small improvement is seen afterwards. After spinal fusion, ambulation often becomes difficult, especially in exercise walkers. These findings are important for health-care professionals, in order to inform and prepare the patients and their parents properly for a planned spinal fusion.

Physical therapy and imaging outcome measures in a haemophilia population treated with factor prophylaxis: current status and future directions.

Routine infusions of factor VIII to prevent bleeding, known as prophylaxis, and other intensive therapies are being more broadly applied to patients with haemophilia. These therapies differ widely in replacement product usage, cost, frequency of venous access and parental effort. In order to address residual issues relating to recommendations, implementation, and evaluations of prophylaxis therapy in persons with haemophila, a multinational working group was formed and called the International Prophylaxis Study Group (IPSG). The group was comprised of haemophilia treaters actively involved in studies of prophylaxis from North America and Europe. Two expert committees, the Physical Therapy (PT) Working Group and the Magnetic Resonance Imaging (MRI) Working Group were organized to critically assess existing tools for assessment of joint outcome. These two committees independently concluded that the WFH Physical Examination Scale (WFH PE Scale) and the WFH X-ray Scale (WFH XR Scale) were inadequately sensitive to detect early changes in joints. New scales were developed based on suggested modifications of the existing scales and called the Haemophilia Joint Health Score (HJHS) and the International MRI Scales. The new scales were piloted. Concordance was measured by the intra-class correlation coefficient of variation. Reliability of the HJHS was excellent with an inter-observer co-efficient of 0.83 and a test-retest value of 0.89. The MRI study was conducted using both Denver and European scoring approaches; inter-reader reliability using the two approaches was 0.88 and 0.87; test-retest reliability was 0.92 and 0.93. These new PT and MRI scales promise to improve outcome assessment in children on early preventive treatment regimens.

Spina bifida at the sacral level: more than minor gait disturbances.

OBJECTIVE: To investigate functional outcome in two groups of children with sacral level paralysis: myelomeningocele (MMC) versus lipomyelomeningocele (LMMC). Additionally both groups were compared with each other and when possible with reference values. DESIGN: Cross-sectional study by means of (1) clinical assessment, and (2) disability measurement. SETTING: Spina bifida outpatient clinic at a university hospital in the Netherlands. SUBJECTS: Sample of 30 children with MMC and 14 with LMMC. Mean age (SD) 6.0 (4.9) and 8.4 (4.9) years respectively. MAIN MEASURES: Muscle strength, ambulation level, motor performance (Bayley Scales of Infant Development (BSID) and Movement Assessment Battery for Children), and the Pediatric Evaluation of Disability Inventory (PEDI). RESULTS: The majority of patients in both groups were normal ambulant, 14/21 (67%) in MMC and 9/14 (64%) in LMMC. Ambulation was strongly associated with muscle strength of hip abductors (odds ratio (OR): 13.5, 95% confidence interval (CI) 2.5-73.7), and ankle dorsal-flexor muscles (OR: 110, 95% CI 8.9-135.9). No significant differences were found in lesion and ambulation level. Muscle strength and motor performance were significantly lower in the MMC group than in the LMMC group (p < 0.05). PEDI scores were comparable in both groups. Most problems were noted in mobility skills and caregiver assistance in self-care, especially regarding bladder and bowel management. CONCLUSIONS: Gross motor and functional problems were seen in both groups. The MMC group showed more muscle weakness and motor problems. However, in both groups caregiver assistance was needed for a prolonged period, especially regarding bladder and bowel management. These findings need special attention, particularly in children who attend regular schools.

Long-term outcome of neurosurgical untethering on neurosegmental motor and ambulation levels.

The aim of this study was to determine the long-term outcome of neurosurgical untethering on neurosegmental motor level and ambulation level in children with tethered spinal cord syndrome. Forty-four children were operated on (17 males, 27 females; mean age at operation 6 years 2 months, SD 5 years). Sixteen patients had myelomeningocele, nine had lipomyelomeningocele, and 19 had other types of spinal dysraphism. Motor level and ambulation level were assessed pre- and three times postsurgery (mean duration of follow-up 7 years 1 month, SD 1 year 8 months). Deterioration of motor level was seen in five of 44 patients, 36 of 44 remained stable, while improvement was seen in three of 44 patients. Deterioration of ambulation level was seen in five of 44 patients, and remained stable in 26 of 44. Thirteen of 44 children were too young to ambulate at time of operation (< 2 years 6 months). Late deterioration of motor or ambulation level was only seen in (lipo) myelomeningocele patients. Deterioration of ambulatory status was strongly associated with obesity and retethering. Revision of the initial tethered cord release was performed in nine of 44 patients, mainly in those with lipomyelomeningocele.

Motor performance and disability in Dutch children with haemophilia: a comparison with their healthy peers.

We investigated whether haemophilic children who are on prophylactic therapy differ from their healthy peers in terms of motor performance and disability. Thirty-nine children, aged 4-12 years, with moderate (eight) and severe (31) haemophilia were included. Patients with severe haemophilia received primary prophylactic therapy that was individually tailored. The number of target joints, amount of swelling, range of motion, muscular strength and pain were measured, as well as motor skills and disability. The scores were compared to the normal population. No patients had target joints. Normal range of motion in all joints was seen in 97% (38/39) of the patients. Strength of elbow, knee, and ankle muscles were within the normal ranges. Ninety-five percent (37/39) of the patients had normal motor performance. Although 90% of our patients (35/39) had no disabilities in activities of daily living (ADL), 79% (31/39) of them reported that the disease impacted on their lives. Seventy-two percent (28/39) of the patients had pain, and in 21% (6/28) of them this was mainly caused by injections. Restrictions in sports or gymnastics were seen in 56% (22/39) of the patients. Those who indicated that they experienced pain and those who indicated restrictions in sports had a higher chance of experiencing disease impact compared to those who did not have these limitations. There were no significant differences between patients with moderate and severe haemophilia. In general, Dutch children with moderate or severe haemophilia are comparable with their healthy peers with regard to motor performance and ADL. However, a majority of the patients perceive an impact of their disease associated with pain and restrictions in sports.

Physiotherapy as an adjuvant to the surgical treatment of anterior chest wall deformities: a necessity? A prospective descriptive study in 21 patients.

PURPOSE: The authors postulated that physiotherapy as an adjuvant to the surgical treatment of anterior chest wall deformities is only indicated if specific abnormalities can be found that could be corrected by physiotherapy. The purpose of this study is to investigate whether such abnormalities can be found and to evaluate their course during a postoperative period of 18 months. METHODS: Twenty-one patients, 16 with pectus excavatum and 5 with pectus carinatum, were evaluated 6 weeks before and 6 weeks, 6 months, and 18 months after surgical correction. Postural impairments, spinal mobility and curvature, muscle strength, and muscle length were evaluated. RESULTS: Preoperatively, poor posture was seen in 10 patients, nonstructural scoliosis in 11, and abdominal muscle weakness in 4 patients. None of the patients had restriction of spinal mobility or shortened pectoral muscles. Six weeks after surgery, poor posture was seen in 9, nonstructural scoliosis in 11, and abdominal muscle weakness in 10 patients. The authors found a higher percentage of recovery for abdominal muscle weakness than for poor posture (90% versus 33%, respectively). CONCLUSIONS: The authors found preoperative postural impairments in 52% of their patients, in patients with pectus carinatum as well as in patients with pectus excavatum. In patients without postural impairments, physiotherapy is not necessary, with the exception of postoperative pulmonary care.

[2 children with discitis]. / Twee kinderen met discitis.

The childhood form of discitis was diagnosed in a 2-year-old girl and a 5-year-old boy. They presented with an antalgic posture, muscular defense and a positive Gowers sign. Characteristic symptoms of this childhood discitis form the triad: unexplained fever, increased erythrocyte sedimentation rate and symptomatic narrowing of an intervertebral space.