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1.
Ideggyogy Sz ; 75(7-08): 247-252, 2022 Jul 30.
Artículo en Inglés | MEDLINE | ID: mdl-35916611

RESUMEN

Background and purpose: The incidence of brachial plexus palsy (BPP) has decreased recently, but the indivi-d-ual's quality of life is endangered. To provide better chan-ces to BPP neonates and infants, the Department of Developmental Neurology worked out, introduced, and applied a complex early therapy, including nerve point stimulation. Methods: After diagnosing the severity of BPP, early intensive and complex therapy should be started. Appro-x-imately after a week or ten days following birth, the slightest form (neurapraxia) normalizes without any intervention, and signs of recovery can be detected around this period. The therapy includes the unipolar nerve point electro-stimulation and the regular application of those elemen-tary sensorimotor patterns, which activate both extremities simultaneously. Results: With the guideline worked out and applied in the Department of Developmental Neurology, full recovery can be achieved in 50% of the patients, and even in the most severe cases (nerve root lesion), functional upper limb usage can be detected with typically developing body-scheme. Conclusion: Immediately starting complex treatment based on early diagnosis alters the outcome of BPP, providing recovery in the majority of cases and enhancing the everyday arm function of those who only partially benefit from the early treatment.


Asunto(s)
Neuropatías del Plexo Braquial , Plexo Braquial , Parálisis Neonatal del Plexo Braquial , Neuropatías del Plexo Braquial/diagnóstico , Neuropatías del Plexo Braquial/terapia , Diagnóstico Precoz , Humanos , Lactante , Recién Nacido , Parálisis Neonatal del Plexo Braquial/diagnóstico , Parálisis Neonatal del Plexo Braquial/terapia , Parálisis/diagnóstico , Parálisis/etiología , Parálisis/terapia , Calidad de Vida
2.
Early Hum Dev ; 158: 105393, 2021 07.
Artículo en Inglés | MEDLINE | ID: mdl-34034089

RESUMEN

BACKGROUND: Neonatal arterial ischemic stroke (NAIS) carries the risk of significant long-term neurodevelopmental burden on survivors. AIMS: To assess the long-term neurodevelopmental outcome of term neonates diagnosed with NAIS and investigate the associations among brain territorial involvement on MRI, clinical risk factors and neurodevelopmental outcomes. STUDY DESIGN: Population-based cohort study. SUBJECTS: Seventy-nine term neonates with NAIS confirmed by MRI born between 2007 and 2017. OUTCOME MEASURES: Long-term neurodevelopmental outcome assessed using the Bayley Scales of Infant Development-II, the Brunet-Lézine test and the Binet Intelligence scales-V. RESULTS: Follow-up was available in 70 (89%) of the subjects enrolled, at a median age of 60 months [IQR: 35-84]. Normal neurodevelopmental outcome was found in 43% of the patients. In a multivariable model, infants with main MCA stroke had an increased risk for overall adverse outcome (OR: 9.1, 95% CI: 1.7-48.0) and a particularly high risk for cerebral palsy (OR: 55.9, 95% CI: 7.8-399.2). The involvement of the corticospinal tract without extensive stroke also increased the risk for cerebral palsy/fine motor impairment (OR: 13.5, 95% CI: 2.4-76.3). Multiple strokes were associated with epilepsy (OR: 9.5, 95% CI: 1.0-88.9) and behavioral problems (OR: 4.4, 95% CI: 1.1-17.5) and inflammation/infection was associated with cerebral palsy (OR: 9.8, 95% CI: 1.4-66.9), cognitive impairment (OR: 9.2, 95% CI: 1.8-47.8) and epilepsy (OR: 10.3, 95% CI: 1.6-67.9). CONCLUSIONS: Main MCA stroke, involvement of the corticospinal tract, multiple strokes and inflammation/infection were independent predictors of adverse outcome, suggesting that the interplay of stroke territorial involvement and clinical risk factors influence the outcome of NAIS.


Asunto(s)
Accidente Cerebrovascular Isquémico , Accidente Cerebrovascular , Encéfalo , Niño , Preescolar , Estudios de Cohortes , Humanos , Lactante , Recién Nacido , Inflamación/complicaciones , Inflamación/epidemiología , Accidente Cerebrovascular/epidemiología
3.
J Appl Genet ; 60(2): 151-162, 2019 May.
Artículo en Inglés | MEDLINE | ID: mdl-30706430

RESUMEN

Autosomal recessive primary microcephaly (MCPH) is a group of rare neurodevelopmental diseases with severe microcephaly at birth. One type of the disorder, MCPH2, is caused by biallelic mutations in the WDR62 gene, which encodes the WD repeat-containing protein 62. Patients with WDR62 mutation may have a wide range of malformations of cortical development in addition to congenital microcephaly. We describe two patients, a boy and a girl, with severe congenital microcephaly, global developmental delay, epilepsy, and failure to thrive. MRI showed hemispherical asymmetry, diffuse pachygyria, thick gray matter, indistinct gray-white matter junction, and corpus callosum and white matter hypoplasia. Whole exome sequencing revealed the same novel homozygous missense mutation, c.668T>C, p.Phe223Ser in exon 6 of the WDR62 gene. The healthy parents were heterozygous for this mutation. The mutation affects a highly conserved region in one of the WD repeats of the WDR62 protein. Haplotype analysis showed genetic relatedness between the families of the patients. Our findings expand the spectrum of mutations randomly distributed in the WDR62 gene. A review is also provided of the brain malformations described in WDR62 mutations in association with congenital microcephaly.


Asunto(s)
Discapacidades del Desarrollo/genética , Microcefalia/genética , Proteínas del Tejido Nervioso/genética , Proteínas de Ciclo Celular , Discapacidades del Desarrollo/diagnóstico por imagen , Discapacidades del Desarrollo/fisiopatología , Femenino , Sustancia Gris/diagnóstico por imagen , Sustancia Gris/patología , Haplotipos , Homocigoto , Humanos , Masculino , Microcefalia/diagnóstico por imagen , Microcefalia/fisiopatología , Mutación Missense/genética , Linaje , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/patología
4.
Ideggyogy Sz ; 64(7-8): 239-47, 2011 Jul 30.
Artículo en Húngaro | MEDLINE | ID: mdl-21863691

RESUMEN

The group or profile of elementary neuromotor patterns is different from the primitive reflex group which is now called the "primitive reflex profile." All these elementary neuromotor patterns are characterized by a high degree of organization, persistence, and stereotypy. In many regards, these patterns are predecessors or precursors of from them the specific human motor patterns which appear spontaneously later as crawling, creeping, sitting, and walking with erect posture. On the basis of our experiences it can be stated that the elementary neuromotor patterns can be activated in all neonates and young infants as congenital motor functions. With regards to their main properties and functional forms, the normal patterns can be divided into two main groups: (1) One group is characterized by lifting of the head and complex chains of movements which are directed to the verticalization of the body; (2) The other group is characterized by complex movements directed to locomotion and change of body position. The neuromotor patterns can be activated by placing the human infant in specific body positions that trigger the vestibulospinal and the reticulospinal systems, the archicerebellum and the basal gangliae. Most of these systems display early myelinisation and are functioning very soon. Many of the elementary neuromotor patterns reflect the most important - spontaneously developing forms of human movements such as sitting upright in space and head elevation crawling and walking. The majority of the human neuromotor patterns are human specific. When the infant is put in an activating position, crawling, sitting up, and walking begin and last as long as the activating position is maintained. Each elementary neuromotor pattern is a repeated, continuous train of complex movements in response to a special activating position. The brainstem is not sufficient to organize these complex movements, the integrity of the basal ganglia is also necessary. Elementary sensorimotor patterns during human ontogenesis reflect phylogenetic develpoment of species specific human functions. During ontogenesis spontaneous motor development gradually arises from these early specific sensorimotor predecessors.. The regular use of the elementary neuromotor patterns for diagnostic puposes has several distinct advantages. The neuromotor patterns have a natural stereotypy in normal infants and, therefore, deflections from this regular pattern may be detected easily, thus, the activation of the elementary neuromotor pattern is a more suitable method for identifying defects in the motor activity of the neonate or young infant than the assessment of the primitive reflexes. The "stiumulus positions," which activate specific movements according to how the human neonate or young infant is positioned, do not activate such motor patterns in neonate or young primates including apes. The characteristic locomotor pattern in these adult primates, including the apes, is swinging and involves brachiation with an extreme prehensility. This species specific motor activity is reflected in the orangutan and gibbon neonates by an early extensive grasp. However, according to our investigations, no crawling, creeping, elementary walk, or sitting up can be activated in them. Neonates grasp the hair of the mother, a vital function for the survival of the young. In contemporary nonhuman primates including apes, the neonate brain is more mature. Thus, pronounced differences can be observed between early motor ontogenesis in the human and all other primates. The earliest human movements are complex performances rather than simple reflexes. The distinction between primitive reflexes and elementary neuromotor patterns is essential. Primitive reflexes are controlled by the brainstem. All can be activated in primates. These reflexes have short durations and contrary to elementary sensorimotor patterns occur only once in response to one stimulus, e.g., one head drop elicits one abduction-adduction of the upper extremities correlated to adduction and flexion of the lower extremities to a lesser degree with the Moro reflex. Elementary neuromotor patterns are much more complex and most of them including elementary walk may be elicited as early as the 19th-20th gestational week, though less perfectly than later.


Asunto(s)
Desarrollo Infantil , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/fisiopatología , Actividad Motora , Postura , Caminata , Animales , Desarrollo Infantil/fisiología , Electromiografía , Desarrollo Fetal/fisiología , Edad Gestacional , Humanos , Lactante , Recién Nacido , Pongo/fisiología , Postura/fisiología , Caminata/fisiología
6.
Ideggyogy Sz ; 56(11-12): 422-9, 2003 Nov 20.
Artículo en Húngaro | MEDLINE | ID: mdl-14743597

RESUMEN

The vestibulospinal system plays determining role in the activation processes of elementary sensorymotor patterns characterised by the verticalization of the trunk and elevation of the head. In the thirties of the last century János Szentágothai proved that axons of the vestibulospinal tract reach the cervical and thoracic spinal cord and innervate the muscles of the neck. Later he verified existence of various connections among the labyrinth, the vestibular system, and the motor nuclei of the III., IV. and the VI. cranial nerves. His studies explain the functional neuroanatomic background of sitting up, sitting and balancing in the air, head-elevation and head control during the execution of a special elementary sensorymotor pattern: "sitting in air". All these functions can be activated by labyrinthine stimulation long before the maturation of the corticospinal tract.


Asunto(s)
Desarrollo Infantil , Discapacidades del Desarrollo/fisiopatología , Animales , Encéfalo/anomalías , Discapacidades del Desarrollo/diagnóstico , Discapacidades del Desarrollo/historia , Discapacidades del Desarrollo/terapia , Historia del Siglo XX , Humanos , Hungría , Lactante , Neurología/historia , Postura
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