RESUMEN
Biallelic pathogenic variants in INPP5K have been associated with a rare congenital muscular dystrophy that presents with muscle weakness, short stature, intellectual disability, and early-onset cataracts. A characteristic pattern of muscle involvement has been identified on muscle MRI in a small case series, including involvement of the vasti, anterior tibialis, and peronei with relative sparing of the rectus femoris, sartorius, and gracilis muscles. This case describes a patient who initially presented in infancy with hypotonia, motor delays, and short stature. She was eventually diagnosed at almost 3 years with INPP5K-related muscular dystrophy after extensive workup that included multiple subspecialist evaluations, genetic testing for non-neuromuscular disorders, and a muscle biopsy. Muscle ultrasound (MUS) was performed at the end of this diagnostic journey, which demonstrated characteristic features that supported the diagnosis, including notable involvement of the vasti muscles with sparing of the rectus femoris. This case highlights how MUS can be a useful tool in the evaluation of children for neuromuscular disorders. MUS can help refine the differential and guide further steps in evaluation when performed early in the diagnostic process and may help clarify interpretation of genetic testing results when performed later.
Asunto(s)
Músculo Esquelético , Ultrasonografía , Humanos , Femenino , Ultrasonografía/métodos , Músculo Esquelético/diagnóstico por imagen , Músculo Esquelético/patología , Distrofias Musculares/genética , Distrofias Musculares/diagnóstico por imagen , PreescolarRESUMEN
BACKGROUND AND OBJECTIVES: Spinal muscular atrophy (SMA) was added to the Recommended Uniform Screening Panel (RUSP) in July 2018, largely on the basis of the availability and efficacy of newly-approved disease modifying therapies. New York State (NYS) started universal newborn screening for SMA in October 2018. The authors report the findings from the first 3 years of screening. METHODS: Statewide neonatal screening was conducted using DNA extracted from dried blood spots using a real-time quantitative polymerase chain reaction (qPCR) assay. Retrospective follow-up data were collected from 9 referral centers across the state on 34 infants. RESULTS: In the first three years since statewide implementation, nearly 650,000 infants have been screened for SMA. 34 babies screened positive and were referred to a neuromuscular specialty care center. The incidence remains lower than previously predicted. The majority (94%), including all infants with 2-3 copies of SMN2, have received treatment. Among treated infants, the overwhelming majority (97%; 29/30) have received gene replacement. All infants in this cohort with 3 copies of SMN2 are clinically asymptomatic post-treatment based on early clinical follow-up data. Infants with 2 copies of SMN2 are more variable in their outcomes. Electrodiagnostic outcomes data from a subgroup of patients (n=11) for whom pre- and post-treatment data demonstrated either improvement or no change in CMAP amplitude at last clinical follow-up compared to pre-treatment baseline. Most infants were treated before 6 weeks of age (median = 34.5 DOL; range 11-180). Delays and barriers to treatment identified by treating clinicians followed two broad themes: medical and non-medical. Medical delays most commonly reported were presence of AAV9 antibodies and elevated troponin I levels. Non-medical barriers included delays in obtaining insurance as well as insurance policies regarding specific treatment modalities. DISCUSSION: The findings from the NYS cohort of newborn screen-identified infants are consistent with other reports of improved outcomes from early diagnosis and treatment. Additional biomarkers of motor neuron health including electromyography can potentially be helpful in detecting pre-clinical decline.
RESUMEN
BACKGROUND: In 2014 the Accreditation Council for Graduate Medical Education modified adult training requirements for child neurology certification to reduce the number of hospital-based rotations and require inclusion of outpatient clinic and electives. We aimed to identify how these training requirements are being met and explored its impact on residents. METHODS: A REDCap questionnaire surveying resident opinion on impact of adult training on resident education, professional development, and wellness was e-mailed to 79 program directors in the United States for distribution in 2020. Results were analyzed using descriptive statistics and t test calculations. Qualitative analysis of narrative responses involved theme identification. RESULTS: A total of 116 child neurology residents participated (30.2% PGY-3, 37.9% PGY-4, and 31.9% PGY-5 residents); 20.9% had all adult rotations during the PGY-3 year, and 79.1% had adult rotations spread throughout residency. Adult training had a small positive impact on resident autonomy and a negative impact on resident wellness regardless of training structure. However, residents with 12 months of adult training during PGY-3 year scored worse on burnout, mood changes, work-life balance, and social well-being (P < 0.05). Some themes identified included residents feeling unsafe due to lack of supervision, that education was not prioritized, and that adult patient care lacked relevance to long-term career goals. CONCLUSIONS: Adult neurology training was found to negatively affect child neurology resident wellness, with a larger negative impact when adult training was completed in 12 months during PGY-3 year. Other identified areas where change could be implemented include improving feelings of resident safety and prioritizing quality and relevance of education.
Asunto(s)
Internado y Residencia , Neurología , Acreditación , Adulto , Niño , Curriculum , Educación de Postgrado en Medicina , Humanos , Neurología/educación , Encuestas y Cuestionarios , Estados UnidosRESUMEN
BACKGROUND AND OBJECTIVES: We aimed to identify how child neurology and neurodevelopmental disabilities residency program directors (PDs) implemented revised Accreditation Council for Graduate Medical Education requirements for adult neurology training for child neurology residents. Before 2014, the American Board of Psychiatry and Neurology certification for child neurology required an adult year, with no specified rotation requirements. At that point, programs scheduled a median of 10 months of adult neurology rotations during the third postgraduate year (PGY-3). In 2014, the adult neurology requirements were modified to include 6 months of hospital-based, 3 months of outpatient, and 3 months of other elective (may include neurophysiology, neuropathology, and/or neuroradiology) rotations. However, the effects of these changes on child neurology residency training nationally have not been characterized. METHODS: A 16-item online survey was emailed to 79 PDs in the United States in September 2020. Survey responses were collected from September to October 2020. Descriptive statistics were calculated, and associations with departmental affiliation (pediatrics/neurology), graduate medical education (GME) funding source, and program size were compared using nonparametric tests. RESULTS: The response rate was 72% (53 pediatric neurology, 3 neurodevelopmental disabilities). The median adult months per year of training were as follows: 9 PGY-3, 2 PGY-4, and 1 PGY-5. Nearly all had both hospital inpatient and consult rotations with night and/or weekend shifts; 57% included neurocritical care and 36% epilepsy monitoring units. 48% of programs scheduled night and weekend shifts (including 25% that scheduled 24-hour calls) for residents on outpatient and elective rotations. Few programs required adult neurophysiology (20%), neuropathology (32%), or neuroradiology (25%). Programs with children's hospital GME funding (for either 2 or 3 years) tended to be larger (p = 0.008). Otherwise, departmental affiliation, funding source, and program size were not associated with rotation timing. DISCUSSION: Most child neurology residency programs still consolidate adult training in the PGY-3 year and often schedule additional hospital shifts during outpatient and elective months. However, there is a small shift toward adult neurology rotations occurring in the PGY-4 and PGY-5. Departmental affiliation, funding source, and program size do not consistently affect training practices. Few programs mandate adult neurophysiology, neuropathology, or neuroradiology rotations.
Asunto(s)
Internado y Residencia , Neurología , Acreditación , Adulto , Niño , Educación de Postgrado en Medicina , Humanos , Neurología/educación , Encuestas y Cuestionarios , Estados UnidosRESUMEN
OBJECTIVE: To identify factors parents considered in treatment decision making for children diagnosed with spinal muscular atrophy on newborn screening. METHODS: Participants were recruited through the University of Rochester or through flyers and Cure SMA social media outreach and asked to complete a telephone or online survey. Data were analyzed through mixed methods using descriptive statistics and theme identification in narrative responses. RESULTS: Eighteen parents with children diagnosed with spinal muscular atrophy on newborn screening participated. Thirteen of 18 chose onasemnogene abeparvovec, 2 of 18 chose risdiplam, 1 of 18 chose nusinersen, and 2 of 18 did not receive treatment. The most commonly reported factors impacting treatment choice included treatment frequency and administration method. Seventeen (94.4%) parents felt that inclusion of spinal muscular atrophy on newborn screening was positive because it could allow for better outcomes with earlier treatment. CONCLUSION: Treatment frequency and administration method were the most important factors for parents in determining spinal muscular atrophy treatment. Parents felt positively about newborn screening due to opportunity for earlier treatment.
Asunto(s)
Toma de Decisiones , Tamizaje Neonatal/métodos , Padres , Participación del Paciente/estadística & datos numéricos , Atrofias Musculares Espinales de la Infancia/diagnóstico , Atrofias Musculares Espinales de la Infancia/terapia , Adulto , Femenino , Humanos , Recién Nacido , MasculinoRESUMEN
This study explored parents' perspectives regarding their involvement in safety for their hospitalized children. We employed qualitative description and semistructured interviews of parents of children in an urban tertiary hospital ward. Content analysis revealed 4 parent themes: risks to child safety and comfort, hospital role as a protector, participation in safety varies by individual and organizational factors, and balancing safety with "speaking up" interpersonal risks. We suggest key concepts to incorporate into staff education and family engagement/safety programs to develop effective partnerships between clinicians and parents.
Asunto(s)
Niño Hospitalizado , Padres/psicología , Seguridad del Paciente/normas , Percepción , Niño , Preescolar , Femenino , Hospitales/normas , Humanos , Masculino , Pediatría/métodos , Pediatría/normas , Investigación CualitativaRESUMEN
High-yielding Heck reactions are demonstrated using 0.05 mol % Pd(OAc)2 without phosphine ligands. These reactions are run in a mesoscale flow reactor which allows precise control of reaction times and temperatures. Profiling yield and selectivity versus Pd loading shows 500 ppm to be optimal for aryl iodides; higher loadings favor side reactions caused by Pd(II) species. Aryl halides are examined via concise Design of Experiment to expand the scope and optimize conditions.