Impact of severe epilepsy on development: Recovery potential after successful early epilepsy surgery

Purpose: Epilepsy surgery in young children with focal lesions offers a unique opportunity to study the impact of severe seizures on cognitive development during a period of maximal brain plasticity, if immediate control can be obtained. We studied 11 children with early refractory epilepsy (median onset, 7.5 months) due to focal lesion who were rendered seizure‐free after surgery performed before the age of 6 years. Methods: The children were followed prospectively for a median of 5 years with serial neuropsychological assessments correlated with electroencephalography (EEG) and surgery‐related variables. Results: Short‐term follow‐up revealed rapid cognitive gains corresponding to cessation of intense and propagated epileptic activity [two with early catastrophic epilepsy; two with regression and continuous spike‐waves during sleep (CSWS) or frontal seizures]; unchanged or slowed velocity of progress in six children (five with complex partial seizures and frontal or temporal cortical malformations). Longer‐term follow‐up showed stabilization of cognitive levels in the impaired range in most children and slow progress up to borderline level in two with initial gains. Discussion: Cessation of epileptic activity after early surgery can be followed by substantial cognitive gains, but not in all children. In the short term, lack of catch‐up may be explained by loss of retained function in the removed epileptogenic area; in the longer term, by decreased intellectual potential of genetic origin, irreversible epileptic damage to neural networks supporting cognitive functions, or reorganization plasticity after early focal lesions. Cognitive recovery has to be considered as a “bonus,” which can be predicted in some specific circumstances.     

Predictors and prevalence of low bone mineral density in fully ambulatory persons with multiple sclerosis

The implications of having multiple sclerosis (MS) for bone health are incompletely understood. The aim of this population-based study is to identify past and current exposures that are associated with bone mass in fully ambulatory persons with MS up to age 50 years and to determine the prevalence of low bone mineral density (BMD) in this group. We measured BMD (hips, lumbar spine, forearms), physical function, BMI, and serum 25(OH) vitamin D in 55 women and 25 men with MS. Patients provided information on demographic variables and medical history, as well as past and current vitamin D and calcium intake, physical activity, and lifestyle habits. In regression analyses, BMD levels were adjusted for age, sex, and BMI. At the femoral neck, strong associations were found for walking distance (beta = 0.152; P < 0.001) and age (beta = ?0.004; P = 0.003), and less certain associations for male sex (beta = 0.055; P = 0.014) and 10-foot timed tandem walk (?0.008; P = 0.013). At the lumbar spine, walking distance (beta = 0.013; P = 0.006) and possibly physical activity growing up (beta = 0.035; P = 0.028) and male sex (beta = ?0.057; P = 0.042), were associated with BMD. At the ultradistal radius, strength of grip (beta = 0.001; P = 0.002), and, less certainly, summer outdoor activities age 16–20 (beta = 0.021; P = 0.009), and age at MS onset (beta = 0.002; P = 0.036) were associated with BMD. Low BMD (z score ≤?2) was present in 19 out of 80 patients. This study shows that MS-related variables as well as past exposures differentially affect BMD at three clinically important skeletal sites. Low BMD is prevalent in these young patients. Bone health should receive attention in care for persons with MS.     

Erratum to: Predictors and prevalence of low bone mineral density in fully ambulatory persons with multiple sclerosis

The implications of having multiple sclerosis (MS) for bone health are incompletely understood. The aim of this population-based study is to identify past and current exposures that are associated with bone mass in fully ambulatory persons with MS up to age 50 years and to determine the prevalence of low bone mineral density (BMD) in this group. We measured BMD (hips, lumbar spine, forearms), physical function, BMI, and serum 25(OH) vitamin D in 55 women and 25 men with MS. Patients provided information on demographic variables and medical history, as well as past and current vitamin D and calcium intake, physical activity, and lifestyle habits. In regression analyses, BMD levels were adjusted for age, sex, and BMI. At the femoral neck, strong associations were found for walking distance (beta = 0.152; P < 0.001) and age (beta = −0.004; P = 0.003), and less certain associations for male sex (beta = 0.055; P = 0.014) and 10-foot timed tandem walk (−0.008; P = 0.013). At the lumbar spine, walking distance (beta = 0.013; P = 0.006) and possibly physical activity growing up (beta = 0.035; P = 0.028) and male sex (beta = −0.057; P = 0.042), were associated with BMD. At the ultradistal radius, strength of grip (beta = 0.001; P = 0.002), and, less certainly, summer outdoor activities age 16–20 (beta = 0.021; P = 0.009), and age at MS onset (beta = 0.002; P = 0.036) were associated with BMD. Low BMD (z score ≤−2) was present in 19 out of 80 patients. This study shows that MS-related variables as well as past exposures differentially affect BMD at three clinically important skeletal sites. Low BMD is prevalent in these young patients. Bone health should receive attention in care for persons with MS.     

Decreased retinoid concentration and retinoid signalling pathways in human atopic dermatitis

Atopic dermatitis (AD) is one of the most common skin diseases. Various features present in AD like inflammation, reduced apoptosis, altered epidermal differentiation and hyperproliferation as well as permeability dysfunction are also regulated by retinoids. The aim of our study is to identify the retinoid signalling pathways and retinoid concentration profiles in AD skin. Human skin biopsies were obtained from healthy volunteers (HS) (n=6) and patients with AD (n=6), with both affected (AS) and non-affected (NAS) skin. The gene expression of retinoid receptors, retinoid-binding proteins and retinoid-metabolizing enzymes was investigated by QRT-PCR. Retinoid concentrations in serum and skin were measured via high performance liquid chromatography mass spectrometry-mass spectrometry. Our results show that the target gene expression of retinoid receptor regulated pathways is significantly decreased in AS and NAS of patients with AD. CYP26A1, transglutaminase 2 and retinoic acid receptor responder 1 decreased in NAS and AS in comparison with HS. The main retinoic acid synthesizing enzyme, retinal dehydrogenase 1, was significantly lower expressed in NAS (0.1%) and AS (1%) in patients with AD. Analysis of retinoid concentration in serum and skin showed comparable all-trans retinoic acid (ATRA) and retinol (ROL) concentrations from AD and healthy serum, but strongly reduced ATRA and ROL concentrations in affected and non-affected skin in comparison with healthy skin. Our data indicate that retinoid transport, synthesis, concentrations and signalling are strongly decreased in the affected but also in non-affected skin of patients with AD suggesting a general intrinsic influence on skin retinoid signalling pathway in patients with AD.     

Ictal postural phantom limb sensation is associated with impaired mental imagery of body parts

Journal of Neurology -