Participation 1.5 years after mild traumatic brain injury in children and adolescents

This longitudinal prospective cohort study examined participation between 6 months and 1.5 years after pediatric mild Traumatic Brain Injury (mTBI) in 68 children aged 6-18 years. Levels of participation in different settings remain mostly stable between 6 months and 1.5 years after mTBI, with a substantial proportion of children continuing to indicate less than full functioning. Future studies should examine risk factors and opportunities for early identification to prevent long-term negative consequences of pediatric mTBI regarding participation

Apraxia of speech and cerebellar mutism syndrome: a case study

Background Cerebellar mutism syndrome (CMS) or posterior fossa syndrome (PFS) consists of a constellation of neuropsychiatric, neuropsychological and neurogenic speech and language deficits. It is most commonly observed in children after posterior fossa tumor surgery. The most prominent feature of CMS is mutism, which generally starts after a few days after the operation, has a limited duration and is typically followed by motor speech deficits. However, the core speech disorder subserving CMS is still unclear. Case presentation This study investigates the speech and language symptoms following posterior fossa medulloblastoma surgery in a 12-year-old right-handed boy. An extensive battery of formal speech (DIAS = Diagnostic Instrument Apraxia of Speech) and language tests were administered during a follow-up of 6 weeks after surgery. Although the neurological and neuropsychological (affective, cognitive) symptoms of this patient are consistent with Schmahmann’s syndrome, the speech and language symptoms were markedly different from what is typically described in the literature. In-depth analyses of speech production revealed features consistent with a diagnosis of apraxia of speech (AoS) while ataxic dysarthria was completely absent. In addition, language assessments showed genuine aphasic deficits as reflected by distorted language production and perception, wordfinding difficulties, grammatical disturbances and verbal fluency deficits. Conclusion To the best of our knowledge this case might be the first example that clearly demonstrates that a higher level motor planning disorder (apraxia) may be the origin of disrupted speech in CMS. In addition, identification of non-motor linguistic disturbances during follow-up add to the view that the cerebellum not only plays a crucial role in the planning and execution of speech but also in linguistic processing. Whether the cerebellum has a direct or indirect role in motor speech planning needs to be further investigated

Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.

CONTEXT: 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused by biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, and POLR3K. The endocrine and growth abnormalities associated with this disorder have not been thoroughly investigated to date. OBJECTIVE: To systematically characterize endocrine abnormalities of patients with 4H leukodystrophy. DESIGN: An international cross-sectional study was performed on 150 patients with genetically confirmed 4H leukodystrophy between 2015 and 2016. Endocrine and growth abnormalities were evaluated, and neurological and other non-neurological features were reviewed. Potential genotype/phenotype associations were also investigated. SETTING: This was a multicenter retrospective study using information collected from 3 predominant centers. PATIENTS: A total of 150 patients with 4H leukodystrophy and pathogenic variants in POLR3A, POLR3B, or POLR1C were included. MAIN OUTCOME MEASURES: Variables used to evaluate endocrine and growth abnormalities included pubertal history, hormone levels (estradiol, testosterone, stimulated LH and FSH, stimulated GH, IGF-I, prolactin, ACTH, cortisol, TSH, and T4), and height and head circumference charts. RESULTS: The most common endocrine abnormalities were delayed puberty (57/74; 77% overall, 64% in males, 89% in females) and short stature (57/93; 61%), when evaluated according to physician assessment. Abnormal thyroid function was reported in 22% (13/59) of patients. CONCLUSIONS: Our results confirm pubertal abnormalities and short stature are the most common endocrine features seen in 4H leukodystrophy. However, we noted that endocrine abnormalities are typically underinvestigated in this patient population. A prospective study is required to formulate evidence-based recommendations for management of the endocrine manifestations of this disorder

Multiple sclerosis in children

In 2 children, both aged 7 years, multiple sclerosis (MS) was diagnosed. In children, the initial clinical features of MS may vary greatly. The first patient presented with an acute disseminated encephalomyelitis (ADEM), and the other with a hemiparesis on the left side. In both patients, the disease was controlled by prolonged pharmacotherapy, starting with methylprednisolone and followed in the first patient by intravenous infusions of immunoglobulins and in the second patient by beta-interferon.</p

Multiple sclerosis in children

In 2 children, both aged 7 years, multiple sclerosis (MS) was diagnosed. In children, the initial clinical features of MS may vary greatly. The first patient presented with an acute disseminated encephalomyelitis (ADEM), and the other with a hemiparesis on the left side. In both patients, the disease was controlled by prolonged pharmacotherapy, starting with methylprednisolone and followed in the first patient by intravenous infusions of immunoglobulins and in the second patient by beta-interferon.</p

Fuorescent retrograde neuronal labeling in rat by means of substances binding specifically to adenine-thymine rich DNA

Six fluorescent substances, binding specifically to adenine-thymine rich DNA, were injected in rat caudate-putamen. This resulted in retrograde axonal transport and fluorescent retrograde labeling of neurons in center-medium parafascicular nucleus, substantia nigra and dorsal raphe. Two of these substances, i.e. "True Blue' and 'Granular Blue', give a very striking blue fluorescent retrograde neuronal labeling. Mid-thoracic spinal injections of these two substances in rat also resulted in a pronounced retrograde fluorescent labeling of neurons of the descending brainstem pathways and of neurons in the sensori-motor cortex