Neuroplasticity during the transition period: How the adolescent brain can recover from aphasia. A pilot study.

BACKGROUND: Increasing clinical and scientific attention is given to the transition of neurological stages from child to adult. Data on brain plasticity during adolescence is interesting for providing adequate evidence-based medical attention to neurological conditions in this population. Acquired aphasia is well described in adults and children, but not in adolescence. OBJECTIVE: We describe a 5-year follow-up of language in three adolescent subjects with post-brain injury aphasia. METHODS: We analysed and scored formal aspects of language three times, language hemispheric dominance twice with dichotic listening test and functional magnetic resonance imaging (fMRI) brain activation patterns that supported expressive and comprehensive language during the recovery period. RESULTS: We found similarities to both paediatric and adult aphasia in these three adolescents. While the level of recovery resembled that of children with aphasia, a more efficient language rehabilitation occurred in those who remained with left hemispheric dominance in the chronic stage, as it is reported in adults. CONCLUSIONS: Our analysis and long-term follow-up provide data for a better understanding on how the injured brain matures during adolescence. More studies with larger samples will help to understand the function of the remaining networks and the recovery from injury in this particular age group.

Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.

OBJECTIVE: To perform phenotype and genotype characterization in myoclonus-dystonia patients and to validate clinical rating tools. METHOD: Two movement disorders experts rated patients with the Burke-Fahn-Marsden and Unified-Myoclonus rating scales using a video-recording protocol. Clinimetric analysis was performed. SGCE mutations were screened by Sanger sequencing and multiplex ligation-dependent probe amplification. RESULTS: 48 patients were included and 43/48 rated. Mean age at assessment was 12.9±10.5 years (range 3-51) and 88% were ≤18 years of age. Myoclonus was a universal sign with a rostro-caudal severity-gradient. Myoclonus increased in severity and spread to lower limbs during action tests. Stimulus-evoked myoclonus was observed in 86.8% cases. Dystonia was common but mild. It had a focal distribution and was action-induced, causing writer's cramp (69%) and gait dystonia (34%). The severity of both myoclonus and dystonia had a strong impact on hand writing and walking difficulties. The Unified Myoclonus Rating scale showed the best clinimetric properties for the questionnaire, action myoclonus and functional subscales, and exceeded the Burke-Fahn-Marsden scale in its utility in assessing functional impairment in MDS patients. Twenty-one different SGCE mutations were identified in 45/48 patients, eleven being novel (most prevalent p. Val187*, founder mutation in Canary Islands). CONCLUSION: This study quantifies the severity of the motor phenotype in SGCE-myoclonus dystonia syndrome, with a special focus on children, and identifies disabilities in gross and fine motor tasks that are essential for childhood development. Our results contribute to the knowledge of SGCE-related MDS in the early stage of evolution, where disease-modifying therapies could be initiated in order to prevent long-term social and physical burdens.

Rizotomía dorsal selectiva: revisión bibliográfica de esta técnica para el tratamiento de la espasticidad en la parálisis cerebral infantil / Selective dorsal rhizotomy: a review of the literature on this technique for the treatment of spasticity in infantile cerebral palsy

Introducción. La parálisis cerebral infantil conforma una entidad bien conocida cuya prevalencia ha variado poco a lo largo de los años. El subtipo más común es la diplejía espástica, y la espasticidad es el síntoma más incapacitante. Para su tratamiento es preciso una intervención multidisciplinar que aúna rehabilitación, uso de fármacos y cirugía ortopédica y del sistema nervioso, donde destaca la rizotomía dorsal selectiva. Objetivo. Mostrar una amplia revisión del uso, indicaciones y consecuencias a largo plazo de la rizotomía dorsal selectiva. Desarrollo. Se trata de una intervención mínimamente invasiva dirigida a disminuir la espasticidad en las extremidades inferiores con el fin de mejorar la deambulación, aminorar el dolor, facilitar los cuidados de la vida diaria y reducir la necesidad de cirugías ortopédicas. En la bibliografía hay una amplia variabilidad de criterios para su uso, y la principal indicación es la diplejía espástica con ausencia de distonía. Diversos países lo practican de forma rutinaria, mientras que en el nuestro no tenemos aún constancia de ello. Conclusiones. Tras la revisión de la bibliografía consideramos que existe suficiente experiencia como para afirmar que la rizotomía dorsal selectiva es una técnica segura y sencilla de la que muchos pacientes con espasticidad de las extremidades inferiores secundaria a parálisis cerebral infantil se pueden beneficiar a corto y largo plazo

Introduction. Infantile cerebral palsy is a well-known condition, the prevalence of which has varied only slightly over the years. The most common subtype is spastic diplegia, and spasticity is the most disabling symptom. Its treatment involves a multidisciplinary intervention that includes rehabilitation, the use of drugs, and orthopaedic and nervous system surgery, where selective dorsal rhizotomy is a prominent procedure. Aim. To present a thorough review of the use, indication and long-term consequences of selective dorsal rhizotomy. Development. It is a minimally invasive procedure aimed at reducing spasticity in the lower extremities in order to improve the ability to walk, lessen pain, facilitate care in everyday life and diminish the need for orthopaedic surgery. The literature contains a wide range of criteria for its use, and the main indication is spastic diplegia with the absence of dystonia. It is routinely performed in several countries, while we have no evidence of its application in ours. Conclusions. Following the literature review, we believe there is enough experience to state that selective dorsal rhizotomy is a safe and simple technique from which many patients with spasticity of the lower limbs secondary to infantile cerebral palsy can benefit in both the short and the long term

Stylohyoid Complex (Eagle) Syndrome Starting in a 9-Year-Old Boy.

Background There are only four previous pediatric reports of the glossopharyngeal neuralgic form of the stylohyoid complex syndrome. Stylohyoid complex has merely been described as cases of glossopharyngeal neuralgia in children. Case Report A 12-year-old boy came to our hospital because of recurrent episodes of severe cranial pain (9/10) lasting for 5 to 15 minutes. Pain affected the right tonsillar fossa, ear, and mastoid region. Since the start at the age of 9 years, the frequency of painful episodes has progressively increased: when admitted to our clinics 3 years later, the child was having up to five episodes daily in spite of analgesic, antiepileptic, and antidepressant drugs; he had abandoned school and leisure. Between episodes, neurological examination detected only discomfort to pressure on the right tonsillar fossa. Three-dimensional computed tomography images of the skull base showed an elongated right styloid process and bilateral calcification of the stylohyoid ligament. After surgical excision of the right styloid process and of part of the stylohyoid ligament, the glossopharyngeal painful episodes ceased. The patient remains asymptomatic seven years later. Conclusion In spite of its rarity in childhood, this debilitating but treatable syndrome should be kept in mind for the differential diagnosis of recurrent cranial pain in the pediatric population.