Optimal Body Weights for Adults with Severe Motor and Intellectual Disabilities.

Determining the optimal body weight for individuals with severe motor and intellectual disabilities (SMID) lacks a standardized approach. In this study, we aimed to develop a formula to estimate the ideal body weight for each SMID patient, considering factors such as reduced muscle and bone mass. We analyzed data from 111 SMID patients (56 male, 55 female; age range 20 to 73 y) who underwent blood tests measuring creatinine (Cr) and cystatin C (cysC) for clinical reasons between Feb. 2018 and Feb. 2023. To create the optimal body weight formula, we utilized three variables: height, estimated glomerular filtration (eGFR)-Cr, and eGFR-cysC. The validity of the formula was assessed by comparing the measured triceps subcutaneous fat thickness (TSF) to the reference TSF (%TSF), evaluating how accurately it reflects the appropriate physique. The derived optimal body weight formula is as follows: Optimal body weight=(height)2×(18.5-25.0)×{1-0.41×(1-eGFR-cysC/eGFR-Cr)}×0.93. Our formula demonstrated validity when using %TSF as an indicator. Establishing a method to determine optimal body weight in SMID patients, considering their low muscle and bone mass, is crucial for accurate nutritional assessment and subsequent nutritional management.

Intranasal insulin improves mitochondrial function and attenuates motor deficits in a rat 6-OHDA model of Parkinson's disease.

AIMS: Experimental and clinical evidences demonstrate that common dysregulated pathways are involved in Parkinson's disease (PD) and type 2 diabetes. Recently, insulin treatment through intranasal (IN) approach has gained attention in PD, although the underlying mechanism of its potential therapeutic effects is still unclear. In this study, we investigated the effects of insulin treatment in a rat model of PD with emphasis on mitochondrial function indices in striatum. METHODS: Rats were treated with a daily low dose (4IU/day) of IN insulin, starting 72 h after 6-OHDA-induced lesion and continued for 14 days. Motor performance, dopaminergic cell survival, mitochondrial dehydrogenases activity, mitochondrial swelling, mitochondria permeability transition pore (mPTP), mitochondrial membrane potential (Δψm ), reactive oxygen species (ROS) formation, and glutathione (GSH) content in mitochondria, mitochondrial adenosine triphosphate (ATP), and the gene expression of PGC-1α, TFAM, Drp-1, GFAP, and Iba-1 were assessed. RESULTS: Intranasal insulin significantly reduces 6-OHDA-induced motor dysfunction and dopaminergic cell death. In parallel, it improves mitochondrial function indices and modulates mitochondria biogenesis and fission as well as activation of astrocytes and microglia. CONCLUSION: Considering the prominent role of mitochondrial dysfunction in PD pathology, IN insulin as a disease-modifying therapy for PD should be considered for extensive research.

Epilepsy surgery reduced seizure frequency for patients with severe motor and intellectual disorders.

INTRODUCTION: Little is known about epilepsy surgery for patients with severe motor and intellectual disorders (SMIDs). We hypothesized that epilepsy surgery could reduce epileptic seizure frequency in these patients. The purpose of this study was to compare pre- and postoperative seizure frequency in patients with SMIDs. METHODS: A total of 288 surgeries were performed for pediatric patients, including those with SMIDs, from 2009 to 2018. Inclusion criteria were as follows: Oshima classification 1 (intelligence quotient <20 and bedridden), ≥2 years old, proven ictal events evaluated by long-term video electroencephalography, and ≥1-year follow-up. Seizure frequency and the number of antiseizure medications (ASMs) were compared between pre- and postepilepsy surgery. Patients' respiratory and feeding conditions were also examined to determine comorbidities. RESULTS: Nineteen patients (5 girls, 14 boys; age: 2 to 12 years) fulfilled the inclusion criteria. One patient underwent focus resection, 2 patients underwent total corpus callosotomy, and 16 patients underwent vagus nerve stimulation therapies. Of 19 patients, 16 (84.2%) had daily seizures, and 3 (15.8%) had weekly seizures before surgery. Epilepsy surgery significantly reduced seizure frequency (p = 0.029). Five patients (26.3%) had status epilepticus (SE) before surgery, which disappeared in all but one after surgery (p = 0.046). The number of ASMs did not change between before and after surgery (p = 0.728). CONCLUSION: Epilepsy surgery reduced the frequency of epileptic seizures and improved SE even among patients with compromised respiratory function and compromised food intake.

Cre-inducible Adeno Associated Virus-mediated Expression of P301L Mutant Tau Causes Motor Deficits and Neuronal Degeneration in the Substantia Nigra.

Accumulation of microtubule associated protein tau in the substantia nigra is associated with several tauopathies including progressive supranuclear palsy (PSP). A number of studies have used mutant tau transgenic mouse model to mimic the neuropathology of tauopathies and disease phenotypes. However, tau expression in these transgenic mouse models is not specific to brain subregions, and may not recapitulate subcortical disease phenotypes of PSP. It is necessary to develop a new disease modeling system for cell and region-specific expression of pathogenic tau for modeling PSP in mouse brain. In this study, we developed a novel strategy to express P301L mutant tau to the dopaminergic neurons of substantia nigra by coupling tyrosine hydroxylase promoter Cre-driver mice with a Cre-inducible adeno-associated virus (iAAV). The results showed that P301L mutant tau was successfully transduced in the dopaminergic neurons of the substantia nigra at the presence of Cre recombinase and iAAV. Furthermore, the iAAV-tau-injected mice displayed severe motor deficits including impaired movement ability, motor balance, and motor coordination compared to the control groups over a short time-course. Immunochemical analysis revealed that tau gene transfer significantly resulted in loss of tyrosine hydroxylase-positive dopaminergic neurons and elevated phosphorylated tau in the substantia nigra. Our development of dopaminergic neuron-specific neurodegenerative mouse model with tauopathy will be helpful for studying the underlying mechanism of pathological protein propagation as well as development of new therapies.

Falls in persons with Parkinson's disease: Do non-motor symptoms matter as much as motor symptoms? / Caídas en personas con enfermedad de Parkinson: ¿Los síntomas no motores importan tanto como los síntomas motores?

ABSTRACT Falls are common among persons with Parkinson's disease (PD). On the other hand, predicting falls is complex as there are both generic and PD-specific contributors. In particular, the role of non-motor symptoms has been less studied. Objective: The objective of this study was to identify the role of non-motor predictors of falling in persons with PD (PwP). Methods: A cross-sectional study was carried out in PwP recruited from a movement disorders clinic. Clinical and demographical data were collected. All PwP were assessed using the Movement Disorders Society Unified Parkinson's Disease Rating Scale (MDS-UPDRS) and the Non-Motor Symptoms Scale (NMSS). Variables were assessed at the bivariate level. Significant variables were put into a logistic regression model. Results: A total of 179 PwP were included. Overall, 16.8% of PwP had fallen in the past 12 months, with 53.3% of them being recurrent fallers. The mean number of monthly falls was 2.5 ± 3.3. Factors associated with falling in the bivariate analysis included the disease duration, Hoehn and Yahr stage, MDS-UPDRS part I and II, postural instability/gait disturbance (PIGD) subtype, NMSS urinary domain, NMSS miscellaneous domain, and non-motor severity burden (all p-values < 0.05). After multivariate analysis, only the disease duration (p = 0.03) and PIGD (p = 0.03) remained as independent risk factors. Conclusion: Disease duration and the PIGD subtype were identified as relevant risk factors for falls in PwP Non-motor symptoms appear to have a less important role as risk factors for falls.

RESUMEN Las caídas son frecuentes entre las personas con Parkinson (EP). La predicción de caídas es compleja ya que existen contribuyentes genéricos y específicos. El papel de los síntomas no motores ha sido menos estudiado. Objetivo: Identificar el papel de los factores no motores en caídas en personas con EP (PcP). Métodos: Estudio transversal en PcP reclutadas en una clínica de trastornos del movimiento. Se incluyeron datos clínicos y demográficos. Todos los PcP se evaluaron con la Escala Unificada de Enfermedad de Parkinson modificada por la Sociedad Internacional de Trastornos del Movimiento (MDS-UPDRS) y la Escala de Síntomas No Motores (NMSS). Se incluyeron variables significativas en un modelo de regresión logística. Resultados: Se incluyeron un total de 179 PcP El 16.8% había presentado una caída en los últimos doce meses y el 53.3% de forma recurrente. El número medio de caídas mensuales fue de 2.5 ± 3.3. Los factores asociados con la caída en el análisis bivariado fueron la duración de la enfermedad, Hoehn e Yahr, MDS-UPDRS parte I y II, subtipo de alteración de la marcha/inestabilidad postural (PIGD), dominio urinario del NMSS, dominio misceláneo del NMSS y carga de severidad no motora (todos los valores de p < 0.05). Después del análisis multivariado, solo la duración de la enfermedad (p = 0.03) y PIGD (p = 0.03) permanecieron como un factor de riesgo independiente. Conclusión: La duración de la enfermedad y PIGD se identificaron como factores de riesgo para caídas. Los síntomas no motores parecen tener un papel menos relevante en las caídas.

Willed­movement training reduces middle cerebral artery occlusion­induced motor deficits and improves angiogenesis and survival of cerebral endothelial cells via upregulating hypoxia­inducible factor­1α.

Willed movement facilitates neurological rehabilitation in patients with stroke. Focal ischaemia is the hallmark of patients after stroke, though the detailed molecular mechanism by which willed movement affects neurological rehabilitation after stroke is not fully understood. The aim of the present study was to dissect the key factors of the hypoxia signaling pathway responsible for the willed movement­improved rehabilitation. Sprague­Dawley rats undergoing right middle cerebral artery occlusion (MCAO) surgery were randomly divided into four groups: MCAO alone, willed movement (WM), environmental modification (EM) and common rehabilitation (CR). The neurological behaviour score was assessed, and infarction areas were detected by TTC staining. In addition, angiogenesis­associated genes (vascular epithelial growth factor, angiogenin­1, matrix metalloproteinases­2 and ­9) and hypoxia inducible factor (HIF)­1α expression was investigated in cells derived from MCAO, WM, EM and CR groups. Finally, the role of HIF­1α using HIF­1α knockdown in HUVECs under hypoxic conditions was evaluated. WM significantly improved neurological behaviour and rehabilitation by increasing the behaviour score and by decreasing the infarction area. In addition, CR, EM and WM raised the expression of angiogenesis­associated genes and HIF­1α, thereby promoting in vitro tube formation of primary endothelial cells. Knockdown of HIF­1α in HUVECs restored the increased expression of angiogenesis­associated genes to normal levels and inhibited in vitro tube formation of HUVECs. Willed movement most effectively improved the neurological rehabilitation of rats with focal ischaemia through upregulation of HIF­1α. The present findings provide insight into willed movement­facilitated rehabilitation and may help treat stroke­triggered motor deficit and improve angiogenesis of cerebral endothelial cells.

Midazolam Sedation Induces Upper Limb Coordination Deficits That Are Reversed by Flumazenil in Patients with Eloquent Area Gliomas.

BACKGROUND: Midazolam has been found to exacerbate or unmask limb motor dysfunction in patients with brain tumors. This study aimed to determine whether the exacerbated upper limb motor-sensory deficits are mediated through benzodiazepine sites by demonstrating reversibility by flumazenil in patients with gliomas in eloquent areas. METHODS: This was an interventional, parallel assignment, nonrandomized trial. Study subjects were admitted in the operating room. Patients with supratentorial eloquent area gliomas and volunteers of similar age without neurologic disease were sedated with midazolam, but still responsive and cooperative. Motor and sensory functions for upper extremities were evaluated by the Nine-Hole Peg Test before and after midazolam, as well as after flumazenil reversal. RESULTS: Thirty-two cases were included: 15 in the glioma group and 17 in the control group. The total dose of midazolam and flumazenil were comparable between the groups. In the glioma group, the times to task completion after midazolam in the contralateral hand (P = 0.001) and ipsilateral hand (P = 0.002) were 26.5 (95% CI, 11.3 to 41.7) and 13.7 (95% CI, 5.0 to 22.4) seconds slower than baseline, respectively. After flumazenil reversal, the contralateral hand (P = 0.99) and ipsilateral hand (P = 0.187) performed 1.2 (95% CI, -3.3 to 5.8) and 1.5 (95% CI, -0.5 to 3.5) seconds slower than baseline, respectively. In the control group, the dominant (P < 0.001) and nondominant hand (P = 0.006) were 2.9 (95% CI, 1.4 to 4.3) and 1.7 (95% CI, 0.5 to 2.9) seconds slower than baseline, respectively. After flumazenil, the dominant hand (P = 0.99) and nondominant hand (P = 0.019) performed 0.2 (95% CI, -0.7 to 1.0) and 1.3 (95% CI, -0.2 to 2.4) seconds faster than baseline, respectively. CONCLUSIONS: In patients with eloquent area gliomas, mild sedation with midazolam induced motor coordination deficits in upper limbs. This deficit was almost completely reversed by the benzodiazepine antagonist flumazenil, suggesting that this is a reversible abnormality linked to occupation of the receptor by midazolam.

Altered brain iron content and deposition rate in Huntington's disease as indicated by quantitative susceptibility MRI.

Altered brain iron content in the striatum of premanifest and manifest Huntington's disease (HD) has been reported. However, its natural history remains unclear. This study aims to investigate altered brain iron content in premanifest and early HD, and the iron deposition rate in these patients through a longitudinal one-year follow-up test, with quantitative magnetic susceptibility as an iron imaging marker. Twenty-four gene mutation carriers divided into three groups (further-from-onset, closer-to-onset and early HD) and 16 age-matched healthy controls were recruited at baseline, and of these, 14 carriers and 7 controls completed the one-year follow-up. Quantitative magnetic susceptibility and effective transverse relaxation rate ( R2∗ ) were measured at 7.0 Tesla and correlated with atrophy and available clinical and cognitive measurements. Higher susceptibility values indicating higher iron content in the striatum and globus pallidus were only observed in closer-to-onset (N = 6, p < 0.05 in caudate and p < 0.01 in putamen) and early HD (N = 9, p < 0.05 in caudate and globus pallidus and p < 0.01 in putamen). Similar results were found by R2∗ measurement. Such increases directly correlated with HD CAG-age product score and brain atrophy, but not with motor or cognitive scores. More importantly, a significantly higher iron deposition rate (11.9%/years in caudate and 6.1%/years in globus pallidus) was firstly observed in closer-to-onset premanifest HD and early HD as compared to the controls. These results suggest that monitoring brain iron may provide further insights into the pathophysiology of HD disease progression, and may provide a biomarker for clinical trials.

Motor and language deficits correlate with resting state functional magnetic resonance imaging networks in patients with brain tumors.

BACKGROUND AND PURPOSE: Evidence of pre-operative resting state functional magnetic resonance (RS-fMRI) validation by correlating it with clinical pre-operative status in brain tumor patients is scarce. Our aim was to validate the functional relevance of RS-fMRI by investigating the association between RS-fMRI and pre-operative motor and language function performance in patients with brain tumor. MATERIALS AND METHODS: Sixty-nine patients with brain tumors were prospectively recruited. Patients with tumors near precentral gyrus (n = 49) underwent assessment for apparent (paresis) and subtle (finger tapping) deficits. Patients with left frontal tumors in the vicinity of the inferior frontal gyrus (n = 29) underwent assessment for gross (aphasia) and mild language (phonological verbal fluency) deficits. RS-fMRI results were extracted by spatial independent component analysis (ICA). RESULTS: Motor group: paretic patients showed significantly (P = 0.01) decreased BOLD signal in ipsilesional precentral gyrus when compared to contralesional one. Significantly (P < 0.01) lower BOLD signal was also observed in ipsilesional precentral gyrus of paretics when compared with the non-paretics. In asymptomatic patients, a strong positive correlation (r = 0.68, P < 0.01) between ipsilesional motor cortex BOLD signal and contralesional finger tapping performance was observed. Language group: patients with aphasia showed significantly (P = 0.01) decreased RS-fMRI BOLD signal in left BA 44 when compared with non- aphasics. In asymptomatic patients, a strong positive correlation (r = 0.72, P < 0.01) between BA 44 BOLD signal and phonological fluency performance was observed. CONCLUSIONS: Our results showed that RS-fMRI BOLD signal of motor and language networks were significantly affected by the tumors implying the usefulness of the method for assessment of the underlying functions in brain tumors patients.

Endothelial cells promote excitatory synaptogenesis and improve ischemia-induced motor deficits in neonatal mice.

Brain microvascular endothelial cells (BMEC) are highly complex regulatory cells that communicate with other cells in the neurovascular unit. Cerebral ischemic injury is known to produce detectable synaptic dysfunction. This study aims to investigate whether endothelial cells in the brain regulate postnatal synaptic development and to elucidate their role in functional recovery after ischemia. Here, we found that in vivo engraftment of endothelial cells increased synaptic puncta and excitatory postsynaptic currents in layers 2/3 of the motor cortex. This pro-synaptogenic effect was blocked by the depletion of VEGF in the grafted BMEC. The in vitro results showed that BMEC conditioned medium enhanced spine and synapse formation but conditioned medium without VEGF had no such effects. Moreover, under pathological conditions, transplanted endothelial cells were capable of enhancing angiogenesis and synaptogenesis and improved motor function in the ischemic injury model. Collectively, our findings suggest that endothelial cells promote excitatory synaptogenesis via the paracrine factor VEGF during postnatal development and exert repair functions in hypoxia-ischemic neonatal mice. This study highlights the importance of the endothelium-neuron interaction not only in regulating neuronal development but also in maintaining healthy brain function.

High prevalence of congenital deafness on Reunion Island is due to a founder variant of LHFPL5.

Reunion Island is a French oversea department in the Indian Ocean with 1.6/1000, an estimated prevalence of deafness that is almost double as compared to the mainland France. Twelve children having isolated bilateral prelingual profound deafness along with motor delay attributed to vestibular areflexia were enrolled. Their mean walking age was 19 months. Electroretinography and temporal bone CT-scans were normal in all cases. A novel homozygous frameshift lipoma HMGIC fusion partner-like 5 (LHFPL5) variant c.185delT p.(Phe62Serfs*23) was identified using whole-exome sequencing. It was found in seven families. Four patients from two different families from both Reunion Island and mainland France, were compound heterozygous: c.185delT p.(Phe62Serfs*23) and c.472C > T p.(Arg158Trp). The phenotype observed in our patients completely mimics the hurry-scurry (hscy) murine Tmhs knock-out model. The recurrent occurrence of same LHFPL5 variant in Reunion Island is attributed to common ancestor couple born in 1693.

Botulinum toxin for hereditary spastic paraplegia: effects on motor and non-motor manifestations / Toxina botulínica nas paraplegias espásticas hereditárias: efeitos nas manifestações motoras e não-motoras

ABSTRACT Motor and non-motor manifestations are common and disabling features of hereditary spastic paraplegia (HSP). Botulinum toxin type A (Btx-A) is considered effective for spasticity and may improve gait in these patients. Little is known about the effects of Btx-A on non-motor symptoms in HSP patients. Objective To assess the efficacy of Btx-A on motor and non-motor manifestations in HSP patients. Methods Thirty-three adult patients with a clinical and molecular diagnosis of HSP were evaluated before and after Btx-A injections. Results Mean age was 41.7 ± 13.6 years and there were 18 women. Most patients had a pure phenotype and SPG4 was the most frequent genotype. The Btx-A injections resulted in a decrease in spasticity at the adductor muscles, and no other motor measure was significantly modified. In contrast, fatigue scores were significantly reduced after Btx-A injections. Conclusion Btx-A injections resulted in no significant functional motor improvement for HSP, but fatigue improved after treatment.

RESUMO Manifestações motoras e não motoras são comuns e incapacitantes nas paraparesias espásticas hereditárias (PEH). Toxina botulínica do tipo A (TB-A) é considerada eficaz no tratamento da espasticidade e pode melhorar a marcha nesses pacientes. Pouco se sabe sobre os efeitos da TB-A sobre sintomas não-motores. Objetivo avaliar a eficácia da TB-A sobre manifestações motoras e não-motoras nas PEH. Método trinta e três pacientes adultos com PEH foram avaliados antes e depois das aplicações de TB-A. Resultados A média de idade foi 41,7 ± 13,6 anos e havia 18 mulheres. A maioria dos pacientes portava a forma pura e o genótipo mais comum foi SPG4. Houve diminuição da espasticidade dos músculos adutores da coxa sem melhora da marcha. A pontuação da fadiga reduziu após as injeções. Conclusão As aplicações de TB-A não melhoraram a marcha nos pacientes mas a redução da fadiga foi significativa após o tratamento.

Association between executive and food functions in the acute phase after stroke / Associações entre função executiva e habilidade de alimentação pós-AVC na fase aguda

ABSTRACT Purpose To investigate potential associations among executive, physical and food functions in the acute phase after stroke. Methods This is a cross-sectional study that evaluated 63 patients admitted to the stroke unit of a public hospital. The exclusion criteria were other neurological and/or psychiatric diagnoses. The tools for evaluation were: Mini-Mental State Examination and Frontal Assessment Battery for cognitive functions; Alberta Stroke Program Early CT Score for quantification of brain injury; National Institutes of Health Stroke Scale for neurological impairment; Modified Rankin Scale for functionality, and the Functional Oral Intake Scale for food function. Results The sample comprised 34 men (54%) and 29 women with a mean age of 63.6 years. The Frontal Assessment Battery was significantly associated with the other scales. In multivariate analysis, executive function was independently associated with the Functional Oral Intake Scale. Conclusion Most patients exhibited executive dysfunction that significantly compromised oral intake.

RESUMO Objetivo Investigar potenciais associações entre funções executiva, física global e de alimentação na fase aguda do acidente vascular cerebral (AVC). Métodos Trata-se de estudo transversal envolvendo 63 pacientes admitidos em unidade de AVC de um hospital público. Os critérios de exclusão foram outros diagnósticos neurológicos e/ou psiquiátricos. Os instrumentos utilizados foram: Mini-Exame do Estado Mental e Bateria de Avaliação Frontal para avaliar funções cognitivas; Alberta Stroke Program Early CT Score para quantificação da lesão cerebral; National Institutes of Health Stroke Scale para comprometimento neurológico; Escala Modificada de Rankin para funcionalidade e Functional Oral Intake Scale para função alimentar. Resultados A amostra compreendeu 34 homens e 29 mulheres, sendo a idade média de 63,6 anos. A Bateria de Avaliação Frontal correlacionou significativamente com as demais escalas. Na análise multivariada, a variável independentemente associada com a função executiva foi a Functional Oral Intake Scale. Conclusão A maioria dos pacientes com AVC apresenta alterações das funções executivas que comprometem significativamente a alimentação oral.

Supplementary motor area syndrome after surgery for parasagittal meningiomas.

BACKGROUND: Resection within the supplementary motor area (SMA) may be accompanied by dramatic motor deficits and speech arrest when the dominant hemisphere is involved, termed the SMA syndrome. Typically, the muscle tone of the paralyzed extremities is preserved, and in most cases, a complete or near complete recovery is seen within a few months. The SMA syndrome has not been recognized for extra-axial tumor surgery in approximation of the SMA. METHODS: We observed the SMA syndrome in a patient operated for a parasagittal meningioma in the posterior frontal region, and this observation intrigued us to prospectively collect similar cases. RESULTS: In the period from January 2010 to December 2015, we observed five patients who developed a partial SMA syndrome after surgery for frontal parasagittal meningiomas. The muscle tone was preserved in the affected extremities. All patients experienced improvement in motor function within a few days, and on follow-up, three out of five patients had recovered completely. Three of the patients had meningioma WHO grade II. CONCLUSIONS: Surgically induced SMA syndrome can easily be confused with pyramidal weakness. This series of cases demonstrate that the syndrome may also develop after removal of extra-axial tumors and is probably underdiagnosed and underreported. The good functional prognosis is helpful in the preoperative counseling and follow-up of these patients.

Formal Neurocognitive Testing in 60 Patients with Congenital Hyperinsulinism.

BACKGROUND: Congenital hyperinsulinism (CHI) is hallmarked by persistent hypoketotic hypoglycemia in infancy. In the majority of all patients, CHI is caused by mutations in the KATP channel genes ABCC8 and KCNJ11, but other genes in the insulin-regulatory pathway have also been described. Repeated episodes of hypoglycemia include an increased risk of seizures and intellectual disability. So far, controlled psychometric studies on cognitive, motor, speech, and social-emotional outcome of CHI patients are missing. Until now, neurodevelopmental long-term outcome in CHI patients has only been measured by questionnaires, self-, parental-, or caregiver-administered instruments. METHODS: This is a prospective study of 60 patients (median age 3.3 years, range 3 months to 57 years): 48 with a diffuse, 9 with a focal, and 3 with an atypical histology. Neurodevelopmental outcome was assessed using standardized psychological tests and questionnaires. RESULTS: 28 of 60 patients showed developmental delay (46.7%). 9 of 57 patients had cognitive deficits (15.8%), 7 of 26 patients had speech problems (26.9%), and 17 of 44 patients had motor problems (38.6%). In 5 of 53 patients, social-emotional problems were reported. Outcome and the underlying genetic defect were not correlated. CONCLUSIONS: Motor problems seem to be prominent in CHI patients. Despite a high incidence of developmental delay, a permanent cognitive defect was only detectable in 9 of 58 patients.

Association of Fine Motor Loss and Allodynia in Fibromyalgia: An fNIRS Study.

Recent studies showed that fine motor control dysfunction was observed in fibromyalgia (FM) syndrome as well as allodynia. However, brain signatures of this association still remain unclear. In this study, finger tapping task (FTT) and median nerve stimulation (MNS) were applied to both hands of 15 FM patients and healthy controls (HC) to understand this relationship. Hemodynamic activity was measured simultaneously using functional near-infrared spectroscopy (fNIRS). Experiments were analyzed separately by using 2x2 repeated measures ANOVA. Results for the FTT experiment revealed that HC showed higher activity than FM patients in bilateral superior parietal gyrus (SPG), left supramarginal gyrus (SMG) and right somatosensory cortex (SI). Furthermore, right-hand FTT resulted in higher activity than left-hand FTT in left SPG, left SI and right motor cortex (MI). In the MNS experiment, FM patients showed higher activity than HC in bilateral SPG, right SMG, right SI and right middle frontal gyrus (MFG). Negative correlation was observed in left SPG between FTT and MNS activities. Besides, MNS activity in left SPG was negatively correlated with left-hand pain threshold.This study revealed that left SPG might be an important indicator to associate fine motor loss and allodynia in FM.

Walking Out of the Curve: Thoracolumbar Kyphosis in Achondroplasia.

BACKGROUND: Thoracolumbar kyphosis (TLK) is common in infants with achondroplasia. Our goals were to examine the natural history of TLK and identify factors associated with persistent TLK. METHODS: We reviewed records of patients with achondroplasia seen by a board-certified orthopaedic surgeon at a tertiary care medical center between 1997 and 2013. Inclusion criteria were minimum 2-year follow-up and radiographs taken at time of presentation, within 6 months of walking age, and within 6 months of the first anniversary of walking age. We defined TLK as kyphosis of ≥20 degrees centered at T12 and L1. We assessed patient demographic characteristics, radiographic parameters (Cobb angle, apical vertebral translation, and apical vertebral wedging for vertebral height and width), and clinical parameters (developmental motor delay, hydrocephalus, presence of a ventriculoperitoneal shunt, and foramen magnum decompression). Developmental motor delay was defined as the inability to sit or ambulate independently by age 14 or 30 months, respectively. Associations between these factors and persistent TLK (ie, unresolved at final follow-up) were evaluated using logistic regression and χ, Fisher exact, and independent t tests. Significance was set at P<0.05. RESULTS: A total of 60 patients were included. Mean values were as follows: age at presentation, 10.9±7.0 months; length of follow-up, 5.7±3.6 years; initial curve, 43.8±11.0 degrees; independent sitting age, 12.6±5.5 months; and independent walking age, 21.1±7.8 months. At walking age and 1 year after walking age, 15% and 58% of patients, respectively, had spontaneous TLK resolution. In total, 30% of patients had persistent TLK at final follow-up. Apical vertebral translation (P=0.001), percentage of apical vertebral wedging for vertebral height (P=0.031), and developmental motor delay (P=0.043) were associated with unresolved TLK. CONCLUSIONS: In patients with achondroplasia, TLK resolved at walking age in 15% of patients and after a year of walking in 58% of patients. Earlier bracing may slow TLK progression in patients with achondroplasia and developmental motor delay. Patients with kyphotic curves between 20 and 40 degrees should be examined intermittently for progressive deformity or worsening symptoms of spinal cord compression. LEVEL OF EVIDENCE: Level II.

Motor and sensory morbidity associated with the anterolateral thigh perforator free flap.

OBJECTIVE: To quantify changes in motor function, sensation, and lower extremity quality of life following anterior lateral thigh free flap (ALT) resection. METHODS: This mixed methods study contained both a prospective cohort arm (n = 20) and retrospective cross-sectional arm (n = 20). In both arms, patients underwent formal motor and sensation testing of the ipsilateral and contralateral thigh by sphygmomanometry and monofilament testing. In the prospective arm, data was collected preoperatively and at the 6-month and 1-year follow-up visits. In the retrospective arm, consecutive patients with a minimum of 6-month postoperative follow-up were enrolled. RESULTS: Postoperatively, 82% of participants endorsed some degree of numbness and tingling at the donor site. On monofilament testing, patients from the prospective arm showed decreased sensibility of the midthigh at both the 6- and 12-month assessment (P < 0.01). Two-point discrimination scores were moderately correlated with the cross-sectional surface area of the flap. Donor thighs demonstrated a similar peak isometric quadriceps contraction (retrospective [retro]: 47 ± 24 mmHg, prospective [pro]: 90 ± 36 mmHg) to the unoperated thighs (retro: 43 mmHg ± 22, pro: 69 ± 35.3 mmHg, P = 0.49). When stratified by perforator anatomy, no significant differences were noted. Subjective donor site morbidity measured with the lower extremity function scale demonstrated no statistically significant difference between the preoperative and 12-month postoperative assessment. CONCLUSION: The ALT flap offers minimal donor site morbidity. Reduced sensibility of the ALT flap is a common complaint among patients. Quadriceps strength is not significantly affected by an ALT free flap harvest. LEVEL OF EVIDENCE: 4. Laryngoscope, 128:1057-1061, 2018.

Predictive Factors and a Survival Score for Patients Irradiated for Metastatic Spinal Cord Compression from Carcinoma of the Salivary Glands.

AIM: To our knowledge, this is the first study focusing on metastatic spinal cord compression (MSCC) from carcinoma of the salivary glands. PATIENTS AND METHODS: Nine patients receiving radiation alone were evaluated for improvement of motor deficits, post-radiation gait function and survival. RESULTS: Of nine characteristics (radiation program, age, sex, additional metastases to bone or to other organs, dynamic of motor deficits, pre-radiation gait function, number of vertebrae affected by MSCC, general condition), strong trends were found for associations between improved motor deficits and their dynamic (p=0.05), post-radiation gait function and pre-treatment ambulatory status (p=0.08) and between survival and additional metastases to other organs (p=0.07), dynamic of motor deficits (p=0.07) and general condition (p=0.07). In addition, a survival score was created. Patients with 2-3 points had a significantly better 6-month survival than those with 0-1 points (100% vs. 0%, p=0.027). CONCLUSION: Characteristics predicting outcomes identified in this study and the new survival score can guide physicians when making treatment decisions.

[Spinal dural arteriovenous fistulas. A series of clinical cases and an analysis of the literature data]. / Dural'nye spinal'nye arteriovenoznye fistuly. Seriia sobstvennykh klinicheskikh nabliudenii i analiz dannykh literatury.

Spinal dural arteriovenous fistulas (SDAVFs) are the most common vascular malformation of the spinal cord, causing segmental lesions of the spinal cord due to venous ischemia. Functional outcomes of treatment in SDAVF patients are favorable, but the rate of improvement varies from 25 to 100%, which complicates prediction of the treatment outcome. AIM: the study aim was to identify a relationship between fistula localization and clinical manifestations and evaluate the effect of disease duration and severity of neurological impairments on immediate and long-term treatment outcomes, based on analysis of the literature and own data. MATERIAL AND METHODS: In September 2016, we performed a PubMed search for publications using keywords 'spinal arteriovenous fistula', 'treatment', and 'outcome'. We selected publications containing information on the patient's age, fistula location, disease duration, and evaluation of symptom severity (Aminoff-Logue scale) preoperatively, postoperatively, and at least 3 months after surgery. The analysis also included data on patients operated on at the clinic. A total of 187 patients were included in the analysis. RESULTS: The fistula was most often located at the T6, T7, and T9 level, with motor disorders being more severe for fistulas located at or below the T9 vertebra. Surgical isolation of the fistula improved the functional state of patients, with patients under the age of 60 years having a better prognosis for recovery of impaired functions. Motor disorders significantly regressed in the early postoperative period in all patients, but in the long-term period, there was worsening of motor disorders in patients with a better baseline functional state.