4th International Conference on Neurology and Brain Disorders

September 09-11, 2021

September 09 -11, 2021 | Virtual Event
INBC 2021

Fernanda Bonilla Colomé

Speaker at Neurology and Brain Disorders 2021 - Fernanda Bonilla Colomé
Pediatric Neurologist, Brazil
Title : Epidemiological profile of patients with spinal muscular atrophy In children hospital of the south of Brazil - Update


Spinal muscular atrophies (SMA), prevalence of 1.5:100.000, recessive inheritance, neuromuscular diseases with anterior medullary horn degeneration, are caused by mutations in the survival of motor neuron protein, represented by SMN1 and SMN2 genes, supporting the motor neurons in the medulla and brainstem. They’re classified according to symptomatic onset age and maximum motor function acquired. Actually, the only approved pharmacological treatment is intrathecal nusinersena. The research objective – observational, transversal and retrospective – is to trace the epidemiological profile, correlating to risk and protective factors for morbimortality and patients using nusinersena. The selected children have a clinical and genetic diagnosis (n = 35), the data collected refer to the period from January/2010 to December/2018, 2 deaths during the period and 1 without genetic confirmation were excluded. The statistical strategy used was through Excel, SPSS v.22.O program and chi-square test with p<0.05. The variables collected were onset age, identification, family history, health plan type, school life, diagnosis, hospitalizations, surgeries and other information of clinical follow-up. The mean age is 7.5 years (range 1-21.9), 48.5% female and 51.5% male. SMA type 1, 2 and 3 presented 21.2%, 66.7% and 12.2%, and there were not patients with type 0 and IV. The diagnosis occurred in the first life year in 45%, 42.4% between the 1-4 and 12.1% from 4-15y. Family history was present at 21.2%. The initial symptoms were hypotonia (33.3%), muscle weakness (42.4%) and delayed neuropsychomotor development (51.5%).  The need of hospital admission is 80% and 45.5% needed ICU. 15% remained more than 30 days (30% with more than 30 days of ICU). The most prevalent emergencies are pulmonary infections (66.7%) and respiratory insufficiency (27.3%) The feeding is oral (66.7%), gastrostomy (30%), nasoenteric (3%), and only 60.6% with adequate weight. Only 21% under treatment, 3 patients took 6m-1y to start treatment and 2 patients waited more than 1y. The reasons of small plot with nusinersena are very advanced disease (6%), study with oral drug (3%), judicial waiting for approval (57.6%) and 12.1% had previous surgery for spinal arthrodesis. A neurologist and a physiotherapist (100%), orthopedist (54%), pulmonologist (27%), occupational therapist (24%), nutritionist (15%), gastroenterologist 12%) and pediatric surgeon (9%) were the professionals of multidisciplinary team. Patients enrolled in education were 57.5%, the majority (45.5%) being in a special school. In our study, the most prevalent SMA was type II. They have 2 SMN2 copies (63.5%), 3 (33.3%) or 4 (3%) related to the prognosis. Those with 2 copies have hypotonia as the first symptom (63%), hospitalizations (37%), pneumonia (54%), respiratory failure (45.5%), respirator use (72%), tracheostomy (45.5%), gastrostomy (64%) and GMFSC V (54.5%). Conclusion: These data confirm, as a disease of high morbimortality, the ensurance of performing adequate genetic tests and have the copies of the SMN 2 counted for prognostic purposes.


Dr. Fernanda Bonilla Colomé is a brazillian doctor living in Curitiba. In the south of Brazil. Certified in Medicine in Porto Alegre by Brazillian Luteran University. She is certified as a Pediatrician from Mackenzie Evangelical University Hospital and in Neuropediatrics from Little Prince Hospital, both localized in the city of Curitiba. During the two years of the residency program in Neuropediatrics, she studied with Dr. Adriana Banzatto Ortega about Neuromuscular diseases, especially Spinal Muscular Atrophy. She is currently taking Masters Degree in Health Sciences Teaching and teaching residents and graduation students in Mackenzie Evangelical University. She is currently attending her office at the Neurokids clinic and at the Pediatric Specialties Center in the cities of Colombo and Curitiba respectively.