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1.
BMC Emerg Med ; 24(1): 164, 2024 Sep 11.
Artículo en Inglés | MEDLINE | ID: mdl-39256650

RESUMEN

BACKGROUND: Neurological emergencies are one of the major diagnosis groups in the Emergency Medical Services (EMS) with the highest rate of misdiagnosis. Despite the knowledge of time sensitivity and the importance of prehospital factors, prehospital delay is common. Although several stroke triage scales have been developed, a gold standard in the prehospital setting is lacking. OBJECTIVES: Our aim was to evaluate the perception of neurological emergencies by EMS personnel and to identify current problems, difficulties and opportunities for improvement in the prehospital management of stroke, seizure, non-specific neurological symptoms, and paediatric neurological emergencies. METHODS: The study was conducted as an online survey through SoSci Survey and was made available from March 1st to June 30th 2023 to all personnel working in emergency medical services. The access link was distributed through snowballing, social media, and through a QR code on a promotional poster. The survey was completed anonymously. The final survey consisted of 30 questions in German on the topics of neurological emergencies, general neurological assessment, specific neurological examination including paediatric assessment, stroke, and seizures, and finally suggestions for improvement. RESULTS: The largest group of participants were paramedics, who estimated to encounter neurological emergencies at a general rate of 20-60%. When unease was felt, the main reasons were ambiguity of symptoms and insufficient admission capacity of hospitals. The biggest challenges were highly varied. Almost 80% of participants assumed that the neurological assessment would be omitted in difficult patient groups such as demented, intoxicated or children. 75% felt uncomfortable making a paediatric assessment, 50% were unfamiliar with the Paediatric Glasgow Coma Scale. CONCLUSIONS: Support through more standardized practical training and defined, uniform guidelines is needed. There was also a clear need for peer collaboration, feedback and case sharing. Digitalization, the usage of telemedicine and updated versions of the documentation protocols including paediatric adaptations to current guidelines could further improve current neurological assessment in the prehospital setting.


Asunto(s)
Servicios Médicos de Urgencia , Enfermedades del Sistema Nervioso , Examen Neurológico , Humanos , Encuestas y Cuestionarios , Examen Neurológico/métodos , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/terapia , Masculino , Femenino , Convulsiones/diagnóstico , Adulto , Auxiliares de Urgencia , Urgencias Médicas , Persona de Mediana Edad , Alemania , Accidente Cerebrovascular/terapia , Accidente Cerebrovascular/diagnóstico
2.
JMIR Form Res ; 8: e47246, 2024 Sep 02.
Artículo en Inglés | MEDLINE | ID: mdl-39222352

RESUMEN

BACKGROUND: There is little guidance available, and no uniform assessment battery is used in either in-person or remote evaluations of people who are experiencing persistent physical symptoms post concussion. Selecting the most appropriate measures for both in-person and remote physical assessments is challenging because of the lack of expert consensus and guidance. OBJECTIVE: This study used expert consensus processes to identify clinical measures currently used to assess 5 physical domains affected by concussion (neurological examination, cervical spine, vestibular, oculomotor, or effort) and determine the feasibility of applying the identified measures virtually. METHODS: The Delphi approach was used. In the first round, experienced clinicians were surveyed regarding using measures in concussion assessment. In the second round, clinicians reviewed information regarding the psychometric properties of all measures identified in the first round by at least 15% (9/58) of participants. In the second round, experts rank-ordered the measures from most relevant to least relevant based on their clinical experience and documented psychometric properties. A working group of 4 expert clinicians then determined the feasibility of virtually administering the final set of measures. RESULTS: In total, 59 clinicians completed survey round 1 listing all measures they used to assess the physical domains affected by a concussion. The frequency counts of the 146 different measures identified were determined. Further, 33 clinicians completed the second-round survey and rank-ordered 22 measures that met the 15% cutoff criterion retained from round 1. Measures ranked first were coordination, range of motion, vestibular ocular motor screening, and smooth pursuits. These measures were feasible to administer virtually by the working group members; however, modifications for remote administration were recommended, such as adjusting the measurement method. CONCLUSIONS: Clinicians ranked assessment of coordination (finger-to-nose test and rapid alternating movement test), cervical spine range of motion, vestibular ocular motor screening, and smooth pursuits as the most relevant measures under their respective domains. Based on expert opinion, these clinical measures are considered feasible to administer for concussion physical examinations in the remote context, with modifications; however, the psychometric properties have yet to be explored. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.2196/40446.


Asunto(s)
Conmoción Encefálica , Técnica Delphi , Humanos , Conmoción Encefálica/diagnóstico , Conmoción Encefálica/fisiopatología , Masculino , Psicometría/métodos , Femenino , Encuestas y Cuestionarios , Examen Neurológico/métodos , Examen Neurológico/normas , Adulto
3.
Clin Med (Lond) ; 24(5): 100241, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39244036

RESUMEN

Reproducible and standardised neurological assessment scales are important in quantifying research outcomes. These scales are often performed by non-neurologists and/or non-clinicians and must be robust, quantifiable, reproducible and comparable to a neurologist's assessment. COVID-CNS is a multi-centre study which utilised the Neurological Impairment Scale (NIS) as a core assessment tool in studying neurological outcomes following COVID-19 infection. We investigated the strengths and weaknesses of the NIS when used by non-neurology clinicians and non-clinicians, and compared performance to a structured neurological examination performed by a neurology clinician. Through our findings, we provide practical advice on how non-clinicians can be readily trained in conducting reproducible and standardised neurological assessments in a multi-centre study, as well as illustrating potential pitfalls of these tools.


Asunto(s)
COVID-19 , Enfermedades del Sistema Nervioso , Examen Neurológico , Humanos , COVID-19/diagnóstico , Examen Neurológico/métodos , Examen Neurológico/normas , Reproducibilidad de los Resultados , Enfermedades del Sistema Nervioso/diagnóstico , SARS-CoV-2 , Índice de Severidad de la Enfermedad
4.
Resuscitation ; 202: 110362, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39151721

RESUMEN

AIM: To investigate the performance of the 2021 ERC/ESICM-recommended algorithm for predicting poor outcome after cardiac arrest (CA) and potential tools for predicting neurological recovery in patients with indeterminate outcome. METHODS: Prospective, multicenter study on out-of-hospital CA survivors from 28 ICUs of the AfterROSC network. In patients comatose with a Glasgow Coma Scale motor score ≤3 at ≥72 h after resuscitation, we measured: (1) the accuracy of neurological examination, biomarkers (neuron-specific enolase, NSE), electrophysiology (EEG and SSEP) and neuroimaging (brain CT and MRI) for predicting poor outcome (modified Rankin scale score ≥4 at 90 days), and (2) the ability of low or decreasing NSE levels and benign EEG to predict good outcome in patients whose prognosis remained indeterminate. RESULTS: Among 337 included patients, the ERC-ESICM algorithm predicted poor neurological outcome in 175 patients, and the positive predictive value for an unfavourable outcome was 100% [98-100]%. The specificity of individual predictors ranged from 90% for EEG to 100% for clinical examination and SSEP. Among the remaining 162 patients with indeterminate outcome, a combination of 2 favourable signs predicted good outcome with 99[96-100]% specificity and 23[11-38]% sensitivity. CONCLUSION: All comatose resuscitated patients who fulfilled the ERC-ESICM criteria for poor outcome after CA had poor outcome at three months, even if a self-fulfilling prophecy cannot be completely excluded. In patients with indeterminate outcome (half of the population), favourable signs predicted neurological recovery, reducing prognostic uncertainty.


Asunto(s)
Algoritmos , Electroencefalografía , Paro Cardíaco Extrahospitalario , Humanos , Estudios Prospectivos , Masculino , Femenino , Persona de Mediana Edad , Paro Cardíaco Extrahospitalario/terapia , Paro Cardíaco Extrahospitalario/mortalidad , Anciano , Pronóstico , Electroencefalografía/métodos , Examen Neurológico/métodos , Coma/etiología , Coma/diagnóstico , Reanimación Cardiopulmonar/métodos , Fosfopiruvato Hidratasa/sangre , Biomarcadores/sangre , Escala de Coma de Glasgow , Valor Predictivo de las Pruebas , Neuroimagen/métodos , Potenciales Evocados Somatosensoriales
6.
Neurophysiol Clin ; 54(5): 102999, 2024 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-39042993

RESUMEN

OBJECTIVES: The Romberg test, undoubtedly a classical and well-established method in physical neurological assessment of patients with sensory ataxia, has long been suspected to be prone to several limitations. Here, we quantified upright stance before and after visual deprivation in a selected cohort of patients with pure sensory neuropathy. METHODS: Static balance was assessed in sensory neuropathy patients during quiet stance on a force platform under different visual and proprioceptive feedback conditions. Sural nerve neurography was employed to evaluate the severity of peripheral neuropathy. Conventional and advanced postural sway metrics were investigated to draw a quantitative analogy to the clinical Romberg test. RESULTS: Posturographic analyses showed that patients displayed Romberg and vestibular Romberg quotient values around 2, indicating an approximately twofold increase in body sway in the absence of vision. However, the diagnostic discrimination ability between patients and controls was only modest. Even less impactful were the diagnostic contributions of frequency domain and non-linear sway analyses. This was primarily attributed to the heightened body sway exhibited by patients with sensory neuropathy under 'eyes open' conditions, diminishing the contrast with the 'eyes closed' condition as assessed in the classical Romberg test. CONCLUSION: We conclude that the Romberg test, even in its quantitative form with the aid of an apparatus, had an unsatisfactory classification value in terms of distinguishing patients from healthy controls. Instead, it should be interpreted within the comprehensive context of the broader neurological examination and the electrodiagnosis of peripheral nerve function.


Asunto(s)
Equilibrio Postural , Humanos , Equilibrio Postural/fisiología , Femenino , Masculino , Persona de Mediana Edad , Adulto , Anciano , Examen Neurológico/métodos , Enfermedades del Sistema Nervioso Periférico/diagnóstico , Enfermedades del Sistema Nervioso Periférico/fisiopatología , Propiocepción/fisiología
7.
Dev Neurorehabil ; 27(5-6): 186-193, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-39037026

RESUMEN

Prenatal SARS-CoV-2 infection may be a risk factor for neurological impairment. This study describes the neuromotor behavior of infants prenatally exposed to SARS-CoV-2 using gold standard tools for early detection of neurological impairment. Sixteen infants were included in this exploratory longitudinal study. Infants were assessed at 3 months using the Prechtl General Movement Assessment, and at 6 months using the Hammersmith Infant Neurological Examination. Infants might have presented neuromotor limitations at 3 months; however, they progressed to a low-risk outcome of neurological impairment at 6 months.


Asunto(s)
COVID-19 , Complicaciones Infecciosas del Embarazo , Efectos Tardíos de la Exposición Prenatal , Humanos , Femenino , Embarazo , Lactante , Estudios Longitudinales , Masculino , Examen Neurológico/métodos , SARS-CoV-2 , Desarrollo Infantil/fisiología
8.
Neurol Sci ; 45(10): 4669-4677, 2024 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-38833097

RESUMEN

The objective of this study was to encompass current knowledge about pathophysiological mechanisms of those specific hand postures or deformities caused by central nervous system disorders. In the era of high-resolution neuroimaging and molecular biology, clinicians are progressively losing confidence with neurological examination. Careful hand observation is of key importance in order to differentiate neurological from non-neurological conditions, central from peripheral aetiologies, and organic from functional disorders. Localizing the potential anatomical site is essential to properly conduct subsequent exams. We provided a practical guide for clinicians to recognize hand patterns caused by central nervous system disorders, avoiding mimicking conditions, thus optimizing and prompting the diagnostic pathway.


Asunto(s)
Mano , Neurólogos , Humanos , Mano/fisiopatología , Examen Neurológico/métodos , Enfermedades del Sistema Nervioso Central/diagnóstico , Enfermedades del Sistema Nervioso Central/diagnóstico por imagen
9.
Continuum (Minneap Minn) ; 30(3): 556-587, 2024 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-38830063

RESUMEN

OBJECTIVE: This article provides an overview of the evaluation of patients in neurocritical care settings and a structured approach to recognizing and localizing acute neurologic emergencies, performing a focused examination, and pursuing workup to identify critical findings requiring urgent management. LATEST DEVELOPMENTS: After identifying and stabilizing imminent threats to survival, including respiratory and hemodynamic compromise, the initial differential diagnosis for patients in neurocritical care is built on a focused history and clinical examination, always keeping in mind critical "must-not-miss" pathologies. A key priority is to identify processes warranting time-sensitive therapeutic interventions, including signs of elevated intracranial pressure and herniation, acute neurovascular emergencies, clinical or subclinical seizures, infections of the central nervous system, spinal cord compression, and acute neuromuscular respiratory failure. Prompt neuroimaging to identify structural abnormalities should be obtained, complemented by laboratory findings to assess for underlying systemic causes. The indication for EEG and lumbar puncture should be considered early based on clinical suspicion. ESSENTIAL POINTS: In neurocritical care, the initial evaluation is often fast paced, requiring assessment and management to happen in parallel. History, clinical examination, and workup should be obtained while considering therapeutic implications and the need for lifesaving interventions.


Asunto(s)
Cuidados Críticos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Cuidados Críticos/métodos , Enfermedades del Sistema Nervioso/diagnóstico , Enfermedades del Sistema Nervioso/terapia , Enfermedades del Sistema Nervioso/fisiopatología , Examen Neurológico/métodos , Examen Físico/métodos , Adulto
10.
Medicina (Kaunas) ; 60(6)2024 Jun 09.
Artículo en Inglés | MEDLINE | ID: mdl-38929575

RESUMEN

Patients with movement disorders such as Parkinson's disease (PD) living in remote and underserved areas often have limited access to specialized healthcare, while the feasibility and reliability of the video-based examination remains unclear. The aim of this narrative review is to examine which parts of remote neurological assessment are feasible and reliable in movement disorders. Clinical studies have demonstrated that most parts of the video-based neurological examination are feasible, even in the absence of a third party, including stance and gait-if an assistive device is not required-bradykinesia, tremor, dystonia, some ocular mobility parts, coordination, and gross muscle power and sensation assessment. Technical issues (video quality, internet connection, camera placement) might affect bradykinesia and tremor evaluation, especially in mild cases, possibly due to their rhythmic nature. Rigidity, postural instability and deep tendon reflexes cannot be remotely performed unless a trained healthcare professional is present. A modified version of incomplete Unified Parkinson's Disease Rating Scale (UPDRS)-III and a related equation lacking rigidity and pull testing items can reliably predict total UPDRS-III. UPDRS-II, -IV, Timed "Up and Go", and non-motor and quality of life scales can be administered remotely, while the remote Movement Disorder Society (MDS)-UPDRS-III requires further investigation. In conclusion, most parts of neurological examination can be performed virtually in PD, except for rigidity and postural instability, while technical issues might affect the assessment of mild bradykinesia and tremor. The combined use of wearable devices may at least partially compensate for these challenges in the future.


Asunto(s)
Trastornos del Movimiento , Examen Neurológico , Telemedicina , Humanos , Telemedicina/tendencias , Trastornos del Movimiento/diagnóstico , Examen Neurológico/métodos , Examen Neurológico/normas , Examen Neurológico/instrumentación , Enfermedad de Parkinson/diagnóstico , Enfermedad de Parkinson/fisiopatología , Temblor/diagnóstico
11.
J Rehabil Med ; 56: jrm26192, 2024 Jun 25.
Artículo en Inglés | MEDLINE | ID: mdl-38915293

RESUMEN

OBJECTIVE: To explore and characterize somatosensory dysfunction in patients with post-polio syndrome and chronic pain, by conducting examinations with Quantitative Sensory Testing. DESIGN: A cross-sectional, descriptive, pilot study conducted during 1 month. SUBJECTS/PATIENTS: Six patients with previously established post-polio syndrome and related chronic pain. METHODS: All subjects underwent a neurological examination including neuromuscular function, bedside sensory testing, a thorough pain anamnesis, and pain drawing. Screening for neuropathic pain was done with 2 questionnaires. A comprehensive Quantitative Sensory Testing battery was conducted with z-score transformation of obtained data, enabling comparison with published reference values and the creation of sensory profiles, as well as comparison between the study site (more polio affected extremity) and internal control site (less affected extremity) for each patient. RESULTS: Derived sensory profiles showed signs of increased prevalence of sensory aberrations compared with reference values, especially Mechanical Pain Thresholds, with significant deviation from reference data in 5 out of 6 patients. No obvious differences in sensory functions were seen between study sites and internal control sites. CONCLUSION: Post-polio syndrome may be correlated with a mechanical hyperalgesia/allodynia and might be correlated to a somatosensory dysfunction. With lack of evident side-to-side differences, the possibility of a generalized dysfunction in the somatosensory system might be considered.


Asunto(s)
Síndrome Pospoliomielitis , Humanos , Síndrome Pospoliomielitis/fisiopatología , Síndrome Pospoliomielitis/complicaciones , Proyectos Piloto , Estudios Transversales , Femenino , Masculino , Persona de Mediana Edad , Anciano , Dimensión del Dolor , Umbral del Dolor/fisiología , Dolor Crónico/fisiopatología , Dolor Crónico/etiología , Dolor Crónico/diagnóstico , Trastornos Somatosensoriales/etiología , Trastornos Somatosensoriales/fisiopatología , Trastornos Somatosensoriales/diagnóstico , Adulto , Examen Neurológico/métodos , Hiperalgesia/fisiopatología , Hiperalgesia/diagnóstico , Neuralgia/etiología , Neuralgia/diagnóstico , Neuralgia/fisiopatología
12.
Dev Neurorehabil ; 27(3-4): 116-125, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38913178

RESUMEN

A survey was completed by 183 clinicians at a pediatric hospital to investigate knowledge, confidence, and practice patterns defining, identifying, and quantifying dystonia in children. The definition of dystonia was correctly identified by 86% of participants. While 88% reported identifying dystonia, only 42% of physicians and therapists reported quantifying dystonia. A weak, significant correlation, rs =.339, p ≤ .001, was found between years of pediatric experience and confidence identifying dystonia. Clinician reported higher confidence levels identifying and quantifying dystonia if they perform a neurological exam. Clinical training initiatives are needed to improve standardization and build confidence in defining, identifying, and quantifying dystonia.


Asunto(s)
Competencia Clínica , Distonía , Humanos , Estudios Transversales , Distonía/diagnóstico , Niño , Conocimientos, Actitudes y Práctica en Salud , Encuestas y Cuestionarios , Pautas de la Práctica en Medicina/estadística & datos numéricos , Femenino , Masculino , Examen Neurológico/métodos
13.
J Laryngol Otol ; 138(S2): S8-S13, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38779893

RESUMEN

BACKGROUND: Patients presenting to the emergency department with acute vertigo pose a diagnostic challenge. While 'benign' peripheral vestibulopathy is the most common cause, the possibility of a posterior circulation stroke is paradoxically the most feared and missed diagnosis in the emergency department. OBJECTIVES: This review will attempt to cover the significant advances in the ability to diagnose acute vertigo that have occurred in the last two decades. The review discusses the role of neurological examinations, imaging and specific oculomotor examinations. The review then discusses the relative attributes of the Head Impulse-Nystagmus-Test of Skew plus hearing ('HINTS+') examination, the timing, triggers and targeted bedside eye examinations ('TiTrATE'), the associated symptoms, timing and triggers, examination signs and testing ('ATTEST') algorithm, and the spontaneous nystagmus, direction, head impulse testing and standing ('STANDING') algorithm. The most recent technological advancements in video-oculography guided care are discussed, as well as other potential advances for clinicians to look out for.


Asunto(s)
Vértigo , Humanos , Vértigo/diagnóstico , Vértigo/terapia , Enfermedad Aguda , Prueba de Impulso Cefálico/métodos , Algoritmos , Examen Neurológico/métodos , Pruebas de Función Vestibular/métodos , Diagnóstico Diferencial , Servicio de Urgencia en Hospital , Nistagmo Patológico/diagnóstico
14.
Prim Care ; 51(2): 345-358, 2024 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-38692779

RESUMEN

Back pain and neck pain are common in clinical practice, but significant challenges and pitfalls exist in their diagnosis, treatment, and management. From the neurologic standpoint, cervical radiculopathy and lumbosacral radiculopathy are characterized by neck pain or back pain accompanied by sensory and motor symptoms in an arm or leg. The basic neurologic examination is vital, but testing like electromyography and MRI is often needed especially in cases that fail conservative management. Oral medications, injection-based therapies, physical therapy, and surgical evaluation all have a place in the comprehensive neurologic management of back and neck pain and associated radiculopathy.


Asunto(s)
Dolor de Espalda , Dolor de Cuello , Radiculopatía , Humanos , Radiculopatía/diagnóstico , Radiculopatía/terapia , Dolor de Cuello/terapia , Dolor de Cuello/diagnóstico , Dolor de Espalda/terapia , Dolor de Espalda/diagnóstico , Dolor de Espalda/etiología , Examen Neurológico/métodos , Imagen por Resonancia Magnética , Modalidades de Fisioterapia , Electromiografía
16.
JAMA Netw Open ; 7(5): e2413550, 2024 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-38709738

RESUMEN

Importance: Studies suggest that early neurodevelopmental assessments are beneficial for identifying cerebral palsy, yet their effectiveness in practical scenarios and their ability to detect cognitive impairment are limited. Objective: To assess the effectiveness of early neurodevelopmental assessments in identifying cerebral palsy and cognitive and other neurodevelopmental impairments, including their severity, within a multidisciplinary clinic. Design, Setting, and Participants: This diagnostic study was conducted at Monash Children's Hospital, Melbourne, Australia. Participants were extremely preterm infants born at less than 28 weeks' gestation or extremely low birth weight infants less than 1000 g and term encephalopathic infants who received therapeutic hypothermia, attending the early neurodevelopmental clinic between January 2019 and July 2021. Data were analyzed from December 2023 to January 2024. Exposures: Early cerebral palsy or high risk of cerebral palsy, the absence of fidgety movements, and Hammersmith Infant Neurological Examination (HINE) scores at corrected age (CA) 3 to 4 months. Early cerebral palsy or high risk of cerebral palsy diagnosis was based on absent fidgety movements, a low HINE score (<57), and medical neurological examination. Main Outcome and Measures: The outcomes of interest were cerebral palsy, cognitive and neurodevelopmental impairments and their severity, diagnosed at 24 to 36 months' CA. Results: A total of 116 infants (median [IQR] gestational age, 27 [25-29] weeks; 65 [56%] male) were included. Diagnosis of early cerebral palsy or high risk of cerebral palsy demonstrated a sensitivity of 92% (95% CI, 63%-99%) and specificity of 84% (95% CI, 76%-90%) for predicting cerebral palsy and 100% (95% CI, 59%-100%) sensitivity and 80% (95% CI, 72%-87%) specificity for predicting moderate to severe cerebral palsy. Additionally, the accuracy of diagnosis of early cerebral palsy or high risk of cerebral palsy was 85% (95% CI, 77%-91%) for predicting cerebral palsy and 81% (95% CI, 73%-88%) for predicting moderate to severe cerebral palsy. Similarly, the absence of fidgety movements had an 81% (95% CI, 73%-88%) accuracy in predicting cerebral palsy, and HINE scores exhibited good discriminatory power with an area under the curve of 0.88 (95% CI, 0.79-0.97) for cerebral palsy prediction. However, for cognitive impairment, the predictive accuracy was 44% (95% CI, 35%-54%) for an early cerebral palsy or high risk of cerebral palsy diagnosis and 45% (95% CI, 36%-55%) for the absence of fidgety movements. Similarly, HINE scores showed poor discriminatory power for predicting cognitive impairment, with an area under the curve of 0.62 (95% CI, 0.51-0.73). Conclusions and Relevance: In this diagnostic study of infants at high risk for cerebral palsy or other cognitive or neurodevelopmental impairment, early neurodevelopmental assessments at 3 to 4 months' CA reliably predicted cerebral palsy and its severity at 24 to 36 months' CA, signifying its crucial role in facilitating early intervention. However, for cognitive impairment, longer-term assessments are necessary for accurate identification.


Asunto(s)
Parálisis Cerebral , Humanos , Parálisis Cerebral/epidemiología , Parálisis Cerebral/diagnóstico , Femenino , Masculino , Recién Nacido , Lactante , Examen Neurológico/métodos , Recien Nacido Extremadamente Prematuro , Trastornos del Neurodesarrollo/diagnóstico , Trastornos del Neurodesarrollo/epidemiología , Trastornos del Neurodesarrollo/etiología , Preescolar , Australia/epidemiología
20.
Eur J Pediatr ; 183(7): 2995-2999, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38634892

RESUMEN

Neonatal screening for SMA has allowed the identification of infants who may present with early clinical signs. Our aim was to establish whether the presence and the severity of early clinical signs have an effect on the development of motor milestones. Infants identified through newborn screening were prospectively assessed using a structured neonatal neurological examination and an additional module developed for the assessment of floppy infants. As part of the follow-up, all infants were assessed using the HINE-2 to establish developmental milestones. Only infants with at least 24 months of follow-up were included. Normal early neurological examination (n = 11) was associated with independent walking before the age of 18 months while infants with early clinical signs of SMA (n = 4) did not achieve ambulation (duration follow-up 33.2 months). Paucisymptomatic patients (n = 3) achieved ambulation, one before the age of 18 months and the other 2 between 22 and 24 months.  Conclusion: Our findings suggest that early clinical signs may contribute to predict motor milestones development. What is Known: • There is increasing evidence of heterogeneity among the SMA newborns identified via NBS. • The proposed nosology describes a clinically silent disease, an intermediate category ('paucisymptomatic') and 'symptomatic SMA'. What is New: • The presence of minimal clinical signs at birth does not prevent the possibility to achieve independent walking but this may occur with some delay. • The combination of genotype at SMN locus and clinical evaluation may better predict the possibility to achieve milestones.


Asunto(s)
Tamizaje Neonatal , Examen Neurológico , Humanos , Tamizaje Neonatal/métodos , Recién Nacido , Femenino , Masculino , Examen Neurológico/métodos , Lactante , Estudios Prospectivos , Estudios de Seguimiento , Preescolar , Desarrollo Infantil/fisiología
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