Wolumetryczne badania struktur mózgowia metodą rezonansu magnetycznego u dzieci z zespołem Downa

Background and purpose Down syndrome (DS) is the most common genetic cause of mental retardation with deficits in language and memory. Mental retardation of varying degrees is the most consistent feature of DS. The objective of this study was to use high-resolution magnetic resonance imaging (MRI) techniques to investigate the volumes of the hippocampus, amygdala, and temporal and frontal lobes in children with DS compared with healthy children. Material and methods MRI of 49 patients was reviewed prospectively. The study included 23 children with DS (9 girls and 14 boys, mean age 6.7 ± 3.7 years) and 26 healthy children (11 girls and 15 boys, mean age 8.3 ± 2.4 years). Volumes of the right and left hippocampus, the right and left amygdala, temporal and frontal lobes and the total brain volume were measured by a radiologist who was unaware of the diagnosis. Results Total brain volume in children with DS was significantly lower compared with controls. It was associated with significantly lower volume of the frontal and temporal lobes. Children with DS had a significantly smaller right and left hippocampus volume and a significantly smaller right and left amygdala volume than did the control group. We also found a negative correlation between mental retardation and volume of the right hippocampus. Conclusions The presence of these abnormalities from an early age contributes to the specific cognitive and developmental deficits seen in children with DS.Wstęp i cel pracy Zespół Downa (ZD) jest najczęstszą genetyczną przyczyną upośledzenia umysłowego, deficytów mowy i pamięci. Upośledzenie umysłowe różnego stopnia to najbardziej stała cecha zespołu Downa. Celem pracy było wykorzystanie techniki badania rezonansu magnetycznego (RM) wysokiej rozdzielczości do porównania objętości hipokampów, ciał migdałowatych, płatów skroniowych i czołowych dzieci z ZD w porównaniu z dziećmi zdrowymi. Materiał i metody Ocenie poddano 49 badań RM. Badaniem objęto 23 dzieci z ZD (9 dziewczynek i 14 chłopców, średnia wieku: 6,7 ± 3,7 roku). Grupę kontrolną stanowiło 26 dzieci zdrowych (11 dziewczynek i 15 chłopców, średnia wieku: 8,3 ± 2,4 roku). Objętość prawego i lewego hipokampa, prawego i lewego ciała migdałowatego, płatów skroniowych i czołowych oraz całkowita objętość mózgu były mierzone manualnie przez radiologa nieznającego rozpoznania. Wyniki Całkowita objętość mózgu w grupie dzieci z ZD była istotnie mniejsza w porównaniu z grupą kontrolną. Wiązało się to z istotnie mniejszą objętością płatów czołowych i skroniowych. Grupa dzieci z ZD miała istotnie mniejszą objętość prawego i lewego hipokampa oraz prawego i lewego ciała migdałowatego w porównaniu z dziećmi zdrowymi. Wykazano jednocześnie ujemną korelację pomiędzy stopniem upośledzenia umysłowego a objętością prawego hipokampa. Wnioski Obecność opisanych zaburzeń od najmłodszych lat przyczynia się do konkretnych deficytów poznawczych i rozwojowych u dzieci z ZD

Diagnostic difficulties in the recognition of Specific Language Impairment – SLI

Specyficzne zaburzenie językowe (ang. Specific Language Impairmetnt – SLI) polega na trudnościach w wypowiadaniu się oraz rozumieniu mowy. Jest to zaburzenie charakteryzujące się powolnym, odbiegającym od normalnego wzorca rozwojem językowym. Przyczyny i patomechanizmy powodujące SLI nie są do końca znane. Rozważa się tło genetyczne, neurostrukturalne i neurofunkcjonalne. W niniejszej pracy przedstawiono najważniejsze problemy diagnostyczne w rozpoznaniu SLI. Ze względu na to, że problem dotyczy coraz większej liczby pacjentów w wieku przedszkolnym i szkolnym wydaje się to mieć istotne znaczenie w pogłębianiu wiedzy na temat rozpoznania SLI przez polskich logopedów, neurologopedów, a także neurologów. Obraz kliniczny tego zaburzenia nie jest jasny. Cechuje go kilka zróżnicowanych profili rozwoju językowego. Diagnoza specyficznego zaburzenia językowego wymaga współpracy wielu specjalistów, ma charakter zespołowy. Najważniejsze zadanie przypada psychologom i logopedom ze względu na dwa kluczowe kryteria diagnostyczne odnoszące się do poziomu sprawności językowych oraz funkcji poznawczych. W Polsce dostępny jest jeden wystandaryzowany test do diagnozy SLI –Test Rozwoju Językowego. Obraz kliniczny zaburzenia zmienia się wraz z wiekiem – głównie u dzieci w wieku szkolnym i starszym. Współczesne badania wykazują, że problem językowe pacjentów z SLI mają charakter przewlekły. Dotychczas nie opisano pojedynczego podejścia terapeutycznego co do którego udowodniono, że jest uniwersalne i skuteczne w usuwaniu zaburzeń językowych. Pomimo licznych badań wciąż brakuje standardów diagnostycznych w rozpoznaniu SLI.A Specific Language Impairment (SLI) is a difficulty in expressing and understanding speech. It is a disorder characterized by a slow language development that differs from the normal pattern. The causes and pathologies of SLI are not completely known. The genetic, neurostructural and neurofunctional background is considered. This article presents the most important diagnostic problems in the recognition of SLI. Due to the fact that it concerns an increasing number of pre-school and school- -age patients, it is important to broaden the knowledge on the diagnosis of SLI among Polish speech therapists and psychologists. The clinical picture of this disorder is not clear. It is characterized by several different profiles of language development. Diagnosis of a specific language disorder requires the cooperation of many specialists. Unfortunately, only one standardized test used in SLI – TRJ diagnosis (Language Development Test) is available in Poland. The clinical picture of the disorder changes with age - mainly in school and older children. Current research shows that the language problem of patients with SLI is chronic. There is no single therapeutic approach to SLI therapy. Despite numerous research studies, there is a lack of diagnostic standards in the diagnosis of SLI

Anti-inflammatory plasma cytokines in children and adolescents with Down syndrome.

Cytokines participate in many physiological processes including the regulation of immune and inflammatory responses. Production of some important cytokines in children with Down syndrome (DS) is depressed or increased. In this study we analysed the selected anti- inflammatory cytokines: interleukin-4 (IL-4), interleukin-10 (IL-10), interleukin-13 (IL-13) in plasma of children and adolescents with DS. The study group consisted of 20 patients with Down syndrome and 33 healthy subjects at the age of 5-17 years. Levels of: IL-4, IL-10 and IL-13 in plasma samples were determined by specific enzyme- linked immunosorbent assay (ELISA) techniques according to manufacturer's instructions. IL-4 was detectable in 25% subjects with Down syndrome and in 28.6% healthy subjects. IL-13 was detectable in 15% patients with Down syndrome and in 15.2% healthy subjects, respectively. IL-10 was detectable in 1 of 20 patients with Down syndrome and in 2 of 33 healthy subjects only. No significant correlations between measurable cytokine levels and age and gender were found. No significant increased concentration of selected anti- inflammatory cytokines were detected

Levetiracetam protects hippocampal neurons in culture against hypoxia-induced injury

Many experimental studies indicate that some antiepileptic drugs possess neuroprotective properties in varied models of neuronal injury. Levetiracetam is a second-generation antiepileptic drug with a novel mechanism of action. In the present study, we evaluated the putative neuroprotective effect of levetiracetam on primary hippocampal cultures at seven day <i>in vitro</i>. Cell death was induced by incubation of neural cultures in hypoxic conditions over 24 hours. Neuronal injury was assessed by morphometric investigation of death/total ratio of neurons in light microscopy using Trypan blue staining and by evaluation of lactate dehydrogenase (LDH) release in the culture medium. Our results indicate that pre-conditioning of hippocampal cultures with high concentrations of levetiracetam (100 μM and 300 μM) protects neurons against hypoxia-induced death. Two-fold higher number of neurons remained viable as compared to control cultures without drug. Lack of neuroprotective action of the drug on hippocampal neural cultures was observed, when a low concentration (10 μM) of levetiracetam was used. <i>(Folia Histochemica et Cytobiologica 2011, Vol. 49, No. 1, 148–152

Anti-inflammatory plasma cytokines in children and adolescents with Down syndrome.

Cytokines participate in many physiological processes including the regulation of immune and inflammatory responses. Production of some important cytokines in children with Down syndrome (DS) is depressed or increased. In this study we analysed the selected anti- inflammatory cytokines: interleukin-4 (IL-4), interleukin-10 (IL-10), interleukin-13 (IL-13) in plasma of children and adolescents with DS. The study group consisted of 20 patients with Down syndrome and 33 healthy subjects at the age of 5-17 years. Levels of: IL-4, IL-10 and IL-13 in plasma samples were determined by specific enzyme- linked immunosorbent assay (ELISA) techniques according to manufacturer's instructions. IL-4 was detectable in 25% subjects with Down syndrome and in 28.6% healthy subjects. IL-13 was detectable in 15% patients with Down syndrome and in 15.2% healthy subjects, respectively. IL-10 was detectable in 1 of 20 patients with Down syndrome and in 2 of 33 healthy subjects only. No significant correlations between measurable cytokine levels and age and gender were found. No significant increased concentration of selected anti- inflammatory cytokines were detected

The clinical and epidemiological profile of paediatric-onset multiple sclerosis in Poland

Background. Paediatric-onset MS (POMS) has a unique clinical profile compared to the more prevalent adult-onset MS. For this study, we aimed to determine the demographic and clinical characteristics of POMS in Poland as well as addressing some of its epidemiological aspects. Methods. A retrospective study was conducted based on the Polish Multiple Sclerosis Registry, considering a population of children and adolescents with MS (age ≤ 18 years). Data were collected by all 13 centres across Poland specializing in diagnosing and treating POMS. The actual course of the disease and its clinical properties were compared between child (≤12 years) and juvenile (>12 years) patients. MS onset and its prevalence were assessed at the end of 2019, stratified by age range. Results. A total of 329 paediatric or juvenile patients (228 girls, 101 boys) with a clinically definite diagnosis of MS, in conformity with the 2017 McDonald Criteria, were enrolled. For 71 children (21.6%), the first symptoms appeared before the age of 12. The female: male ratio increased with age, amounting to 1:1 in the ≤12 years group and to 2.9:1 in the >12 years group. In most cases, the disease had multi-symptomatic onset (31.3%), and its course was mostly of a relapsing–remitting character (95.7%). The initial Expanded Disability Status Score for both groups was 1.63 ± 1.1, whereas the annual relapse rate was 0.84 during the first 2 years. The time between the onset of symptoms and diagnosis was longer in the younger patients (8.2 ± 4.2 vs. 4.6 ± 3.6 months; p < 0.005). On 31 December 2019, the age-adjusted prevalence standardized to the European standard population was 5.19/100,000 (95% CI, 4.64–5.78). Significantly higher prevalence was noted in the 13–18 years group (7.12; 95% CI, 6.64–7.86) than in the 9–12 years group (3.41; 95% CI, 2.98–3.86) and the <9 years group (0.56; 95% CI, 0.46–0.64; p < 0.001). Conclusion. POMS commencing at the age of ≤12 years is rare, differing significantly from the juvenile-onset and adult MS in terms of clinical characteristics, course, and incidence, as stratified by gender