Educational strategies and active learning in one-teacher-education with an autistic student on the example of a natural science topic (a case study)

Rad s učenicima s posebnim potrebama, prvenstveno rad s učenicima s autizmom vrlo je zahtjevan i iziskuje posebnu pripremu i edukaciju učitelja (i pomoćnika u nastavi). Strategije obrazovanja su poučavanje i učenje, strategija doživljavanja i izražavanja doživljenog, strategija vježbanja i strategija stvaranja. U aktivnoj nastavi se mogu primijeniti različiti postupci. Istraživanje se temelji na strategiji obrazovanja učenika s autizmom pomoću konkretnih primjera koristeći ABA metodu. Rezultati istraživanja provedeni s učenikom s autizmom pokazuju kako je učenik aktivnim učenjem, individualiziranim i prilagođenim programom, uspješno svladao četiri pojma u dva školska sata. Iako za ovo istraživanje nije bitna količina svladanog nastavnog sadržaja koje učenik može svladati u jednom ili dva školska sata, već dokazati da će učenik s autizmom više svladati nastavnog sadržaja uz aktivno učenje. Učenik je dobro reagirao na konkretne primjere voća (jabuka, kruška, banana, avokado, šipak, dinja, limun), pokazivao znakove veselja i zainteresiranosti dok na njemu tradicionalan način poučavanja i učenja (fotografijom) nije obraćao toliku pažnju na voće niti davao ikakve znakove veselja. Tijekom procjene poučavanja i učenja pokazivao je znakove umora i nezainteresiranosti. Uz ohrabrivanje i poticanje procjena je napravljena. Ovaj rad je ujedno analiza slučaja tijekom određenog razdoblja odnosno studija slučaja ili analiza slučaja.Working with students with special needs, primarily working with autistic students is very demanding and requires special preparation and education of teachers (and teaching assistants). Educational strategies are teaching and learning, strategy of experiencing and of expressing experienced things, strategy of practicing (exercising, training), and the strategy of creating. Various procedures can be used in active teaching. The research is based on the strategy of educating students with autism by means of concrete examples using the ABA method. The results of the research conducted with the autistic student show that the learner has successfully mastered four concepts in two school hours thanks to active learning with an individualized and adapted syllabus (programme). Although for this research study the amount of the teaching content that can be acquired in one or two school periods is not essential, but rather to prove that a learner with autism will master the teaching content more effectively with active learning. The student has responded well to concrete examples of fruit (apple, pear, banana, avocado, pomegranate, melon, lemon), showing signs of joy and interest while in traditional teaching and learning (by means of photography) he has not paid such attention to fruit or given any signs of joy. Already during the assessment of teaching and learning, he has showed signs of tiredness and disinterest. With encouragement and stimulation, the assessment has been made. This work is also a case analysis over a given period, namely a case study or case analysis

Diabetes Mellitus in Adolescents

Dijabetes melitus je skupina metaboličkih poremećaja karakteriziranih povišenom koncentracijom glukoze u krvi kao posljedicom nedostatnog lučenja inzulina, izostanka njegova djelovanja ili kombinacije tih dvaju mehanizama. Najčešći oblik dijabetesa u djece i adolescenata je dijabetes mellitus tipa 1, no s pandemijom pretilosti svjedočimo sve većoj učestalosti dijabetesa melitusa tipa 2 već u toj dobi. Uspješno liječenje dijabetesa posebno je važno upravo u vrijeme puberteta, ponajprije kako bi se omogućio normalan rast i razvoj te odgodila pojava kroničnih mikrovaskularnih komplikacija bolesti. Na žalost, s početkom puberteta glikemijska se kontrola obično pogoršava. Pogoršanje kontrole bolesti pripisuje se ponajprije psihološkim problemima adolescentne dobi te slaboj suradljivosti u provođenju dijetetskih mjera i primjeni inzulina. Ipak, dokazano je da to nije jedini uzrok te da promjene endokrinog sustava uvelike pridonose pogoršanju kontrole glikemije u adolescenata.Diabetes mellitus is a group of metabolic diseases characterized by high blood glucose levels resulting from defects in insulin secretion, insulin action, or both. The most common form of diabetes in children and adolescents is type 1 diabetes mellitus. However, there is a growing incidence of type 2 diabetes mellitus even in this age group due to a pandemic spread of obesity. Successful treatment of type 1 diabetes is of particular importance during puberty, primarily to achieve normal growth and sexual maturation as well as to reduce the risk of long-term microvascular complications. Yet, with the onset of puberty, glycemic control usually deteriorates. This deterioration is often attributed to the psychological problems of adolescence and poor compliance with diet and insulin administration. However, this is not the complete explanation since endocrine changes of puberty may also contribute to the poor glycemic control in adolescents

Primary hypothyroidism and nipple hypoplasia in a girl with Wolcott-Rallison syndrome

Abstract Wolcott-Rallison syndrome (WRS), caused by mutation in the EIF2AK3 gene encoding the PERK enzyme, is the most common cause of permanent neonatal diabetes mellitus (PNDM) in consanguineous families and isolated populations. Besides PNDM, it also includes skeletal abnormalities, liver and renal dysfunction, and other inconsistently present features. We present two siblings, who are WRS patients, and are Albanians from Kosovo born to unrelated parents. The older sister presented with PNDM, exocrine pancreatic insufficiency, short stature, microcephaly, normocytic anemia, delay in speech development, skeletal abnormalities, primary hypothyroidism, and hypoplastic nipples. Sequencing of the EIF2AK3 gene identified a homozygous mutation R902X in exon 13. The younger brother was diagnosed with PNDM and died from hepatic failure suggesting that he has been suffering from WRS as well. Including one previously reported patient from Kosovo carrying the same homozygous mutation, there are three WRS patients from this very small, ethnically homogenous region suggesting founder effect in this population. Conclusion: We postulate that thyroid hypoplasia with primary subclinical hypothyroidism already reported in two WRS patients and nipple hypoplasia could also be the phenotypic reflection of the mutation of pleiotropic EIF2AK3 gene in secretory cells

Rezultati praćenja djece i adolescenata s dijabetesom melitusom tipa 1 nakon prijelaza s konvencionalne terapije inzulinom na intenziviranu terapiju inzulinskim analozima

U Klinici za pedijatriju KBC-a Zagreb od godine 2005. započeta je upotreba inzulinskih analoga u liječenju djece i adolescenata s dija- betesom melitusom tipa 1 (DM1). Cilj je ispitivanja unaprijediti proces edukacije na osnovi prvih rezultata liječenja upotrebom inzulinskih analoga. Analizirani su podatci iz medicinske dokumentacije o bolesnicima s obzirom na dob, spol, trajanje dijabetesa, HbA1c, indeks tjelesne mase (body mass index, BMI; korigiran za dob i spol), te dozu inzulina prije i godinu dana nakon početka terapije inzulinskim analozima. U studiju je uključeno 49 bolesnika (49% M, 51% Ž) u dobi od 15,1 do ±2,1 godinu s prosječnim trajanjem bolesti od 6,4 do ±4,2 godine. Godinu dana nakon uvođenja terapije inzulinskim analozima uočeno je statistički značajno povećanje BMI-a i smanjenje doze inzulina. Smanjenje HbA1c nije bilo statistički značajno i nije zamijećena razlika među spolovima. Što su bolesnici bili mlađi, razlika u BMI prije i godinu dana nakon uvođenja terapije inzulinskim analozima bila je veća. BMI je značajno viši u bolesnika godinu dana nakon uvođenja terapije inzulinskim analozima, iako je ukupna doza inzulina bila manja i nije uočena značajna razlika u regulaciji bolesti s obzirom na HbAlc. Tijekom edukacije bolesnika potrebno je stoga posebno naglasiti potrebu uravnoteže- noga kalorijskog unosa nakon uvođenja terapije inzulinskim analozima. Osobito je važno potaknuti primjeren kalorijski unos u male djece

Are kidney malformations an additional feature of MEN2B syndrome? – Case report and literature review

Sindrom multiple endokrine neoplazije 2B (MEN2B) rijetka je autosomno dominatno nasljedna bolest uzrokovana mutacijama protoonkogena RET. Karakteriziran je pojavom medularnog karcinoma štitnjače već od rane, nerijetko dojenačke dobi, feokromocitoma koji je najčešće obostran, sluzničkim neuromima te drugim ekstraendokrinim manifestacijama i specifičnim fenotipskim značajkama koje mogu pomoći u prepoznavanju ovih bolesnika. Prikazujemo pacijenta sa sindromom MEN2B, dijabetesom melitusom tipa 1, inverznim položajem organa te prirođenim malformacijama bubrega i mokraćnog sustava. Pregledom literature uočeno je da se malformacije mokraćnog sustava opisuju i u drugih bolesnika sa sindromom MEN2B. Prepoznata uloga gena RET u razvoju anomalija mokraćnog sustava čini moguću etiološku poveznicu sa sindromom MEN2B. Predlažemo da se malformacije bubrega razmotre kao jedno od obilježja sindroma MEN2B. Budući da se osobine bolesnika sa sindromom MEN2B postupno razvijaju s dobi, prepoznavanje prirođene mane, uz prve znakove ostalih fenotipskih značajki, moglo bi pomoći ranom postavljanju dijagnoze i liječenju ovih bolesnika.Multiple endocrine neoplasia type 2B (MEN2B) is a rare familial syndrome caused by autosomal dominant mutations in the RET proto-oncogene. The disease is characterized by aggressive, early-onset medullary thyroid carcinoma, pheochromocytoma, most often bilateral, and mucosal neuromas together with other distinctive extra-endocrine manifestations and phenotypic features that can help in recognizing the patients and diagnosing the disease. We present the patient with MEN2B syndrome, type 1 diabetes mellitus, situs inversus and congenital kidney and urinary tract malformation. Reviewing the literature revealed other reports on urinary tract malformations in patients suffering from MEN2B. The recognized role of RET gene in kidney development and urinary tract malformations suggests a possible etiological link with MEN2B syndrome. We suggest that urinary tract malformations might be a feature of MEN2B syndrome. As most of the phenotype characteristics of the syndrome develop with age, recognizing congenital malformation might help in early diagnosing and treating the patients

Distinct association patterns of chemokine profile and cardiometabolic status in children and adolescents with type 1 diabetes and obesity

ObjectiveWe compared peripheral blood (PBL) chemokine ligand/receptor profiles in children and adolescents with type 1 diabetes mellitus (T1D) or obesity (OB) (both involving inflammation and vascular complications) to identify their associations with cardiometabolic risk factors.Materials and methodsPBL samples from children and adolescents (12–18 years) included: healthy controls (n=29), patients with T1D (n=31) and OB subjects (n=34). Frequency of mononuclear cell populations and chemokine receptor expression (CCR2, CCR4, CXCR3, CXCR4) were determined by flow cytometry. Chemokine levels of CCL2, CCL5, CXCL10 and CXCL11 were measured by bead-based assay and CXCL12 by ELISA. Data were correlated with cardiovascular, metabolic and inflammatory parameters.ResultsThe proportion of CD14+ monocytes was higher in T1D, whereas the proportion of CD19+ B lymphocytes was higher and CD3+ T lymphocytes was lower in OB. The level of CCL2 was higher in T1D (241.0 (IQR 189.6–295.3) pg/mL in T1D vs 191.5 (IQR 158.0–254.7) pg/mL in control, p=0.033), CXCL11 was lower in OB (6.6 (IQR 4.9–7.7) pg/mL in OB vs 8.2 (IQR 6.9–11.3) pg/mL in control, p=0.018) and CXCL12 was lower in both diseases (2.0 (IQR 1.8–2.5) ng/mL in T1D, 2.1 (IQR 1.9–2.4) ng/mL in OB vs 2.4 (IQR 2.2–2.5) ng/mL in control, p=0.016). Numerous significant associations were found for chemokine ligand/receptor profiles and clinical data. Among these, we are suggesting the most important indicators of cardiometabolic risk in T1D: positive associations of CCR2+ monocytes with blood pressure and CCL12 levels with urine albumin-to-creatinine ratio (ACR), inverse association of CXCR3+ B lymphocytes with AST but positive with triglycerides; and OB: positive associations of CXCL12 levels with triglycerides and AST/ALT, inverse association of CCR4+ and CXCR3+ monocytes with ACR. Both diseases share positive associations for CCR4+ T lymphocytes and blood pressure, inverse associations of CXCR4+ subsets with ACR and CXCR3+ T lymphocytes with lipid profile.ConclusionSignificantly changed chemokine ligand/receptor profiles were found in both T1D and OB even at a young age. Although different associations with cardiometabolic risk factors indicate disease-specific changes, overlapping pattern was found for the associations between CCR4+ T lymphocytes and vascular inflammation, CXCR4+ subsets and albuminuria as well as CXCR3+ T lymphocytes and dyslipidemia. Thus, chemokine axes might present potential therapeutic targets for disease-related morbidity

Role of Parents in Body Mass Reduction in Children with Obesity—Adherence and Success of 1-Year Participation in an Intervention Program

Background and Objectives: Obesity in children and adolescents results in a number of serious health-related consequences necessitating early treatment. Support from family members and family-focused lifestyle interventions can improve effectiveness of the treatment. The aim of the study was to assess the effects of parental characteristics and family-based dietary habits on the adherence and success of a body mass reduction program in children with obesity included in a lifestyle intervention program after 1 year. Materials and Methods: The program included dietetic, psychosocial, and endocrine counseling given to individuals either alone or in groups and was conducted by a multidisciplinary team (consisting of endocrinologists, nurses, psychologists, social counselors, dietitians, and physiotherapists). A total of 113 children aged 10–17 years (mean age 12.9 ± 2.0; 60 girls, 53 boys) were included in the program. After 1 year of participation, the rate of adherence and success were assessed. The effect of the participants’ general characteristics, including anthropometric data, as well as parental characteristics (marital status, employment, education, body mass index (BMI), duration of breastfeeding) and the circumstances of meal consumption (eating at home or outside, fast food consumption), was analyzed. Results: The most important factors predicting body mass reduction success were baseline BMI (p p = 0.04), but they did not predict body mass reduction adherence. Conclusions: The meal consumption habits and support from family members may be among the determinants of adherence to a body mass reduction program for preadolescents and adolescents with obesity. However, the results of the presented study suggested that baseline BMI and WHR are the most important determinants of the body mass reduction success

Jesu li bubrežne malformacije jedno od obilježja sindroma MEN2B? – prikaz bolesnika i pregled literature

Sindrom multiple endokrine neoplazije 2B (MEN2B) rijetka je autosomno dominatno nasljedna bolest uzrokovana mutacijama protoonkogena RET. Karakteriziran je pojavom medularnog karcinoma štitnjače već od rane, nerijetko dojenačke dobi, feokromocitoma koji je najčešće obostran, sluzničkim neuromima te drugim ekstraendokrinim manifestacijama i specifičnim fenotipskim značajkama koje mogu pomoći u prepoznavanju ovih bolesnika. Prikazujemo pacijenta sa sindromom MEN2B, dijabetesom melitusom tipa 1, inverznim položajem organa te prirođenim malformacijama bubrega i mokraćnog sustava. Pregledom literature uočeno je da se malformacije mokraćnog sustava opisuju i u drugih bolesnika sa sindromom MEN2B. Prepoznata uloga gena RET u razvoju anomalija mokraćnog sustava čini moguću etiološku poveznicu sa sindromom MEN2B. Predlažemo da se malformacije bubrega razmotre kao jedno od obilježja sindroma MEN2B. Budući da se osobine bolesnika sa sindromom MEN2B postupno razvijaju s dobi, prepoznavanje prirođene mane, uz prve znakove ostalih fenotipskih značajki, moglo bi pomoći ranom postavljanju dijagnoze i liječenju ovih bolesnika

IL12RB2 Gene is Associated with the age of Type 1 Diabetes Onset in Croatian Family Trios

BACKGROUND: Common complex diseases are influenced by both genetic and environmental factors. Many genetic factors overlap between various autoimmune diseases. The aim of the present study is to determine whether four genetic variants known to be risk variants for several autoimmune diseases could be associated with an increased susceptibility to type 1 diabetes mellitus. METHODS AND FINDINGS: We genotyped four genetic variants (rs2358817, rs1049550, rs6679356, rs9865818) within VTCN1, ANXA11, IL12RB2 and LPP genes respectively, in 265 T1DM family trios in Croatian population. We did not detect association of these polymorphisms with T1DM. However, quantitative transmission disequilibrium test (QTDT, orthogonal model) revealed a significant association between the age of onset of T1DM and IL12RB2 rs6679356 variant. An earlier onset of T1DM was associated with the rs6679356 minor dominant allele C (p = 0.005). The association remained significant even after the Bonferroni correction for multiple testing and permutation. CONCLUSIONS: Variants originally associated with juvenile idiopathic arthritis (VTCN1 gene), sarcoidosis (ANXA11 gene), primary biliary cirrhosis (IL12RB2 gene) and celiac disease (LPP gene) were not associated with type 1 diabetes in our dataset. Nevertheless, association of IL12RB2 rs6679356 polymorphism with the age of T1DM onset suggests that this gene plays a role in defining the time of disease onset

Incidence of Type 1 Diabetes Mellitus in 0 to 14-yr-old Children in Croatia – 2004 to 2012 Study

BACKGROUND: The incidence of type 1 diabetes mellitus (T1DM) among children and adolescents increased during the last 50 yr. The T1DM incidence in Croatia was 8.87/100.000/yr over 1995-2003, with an annual increase of 9%, which placed Croatia among countries with moderate risk for T1DM. AIM: To investigate incidence rates and trends of T1DM from 2004 to 2012 in 0 to 14-yr-old Croatian children, and to compare the results with previous studies in Croatia and other European countries. METHODS: T1DM crude incidence rates are estimated for the entire group and three subgroups: 0-4, 5-9, and 10-14 yr. Standardized incidence is calculated using the method of direct standardization according to World Health Organization (WHO) standard world population. The incidence rates by gender, age groups, seasonality, and calendar year, and their interactions were analyzed using Poisson regression model. RESULTS: A total of 1066 cases were ascertained over 2004-2012. The standardized incidence was 17.23/100.000/yr (95% CI: 16.19-18.26), with no significant differences in incidence rates or trends between boys and girls. Statistically significant annual increase of 5.87% (p < 0.001) was found for the whole group, and for the subgroups 5-9 yr (6.82%; p < 0.001) and 10-14 yr (7.47%; p < 0.001). In the youngest subgroup (0-4 yr), annual increase was lower (2.43%; p = 0338) and not statistically significant. CONCLUSION: The incidence of childhood T1DM is increasing in Croatia, thus placing Croatia among countries with high risk for T1DM. The annual increment of 5.87% is considerably lower than 9.0% reported earlier, but still higher than the European average (3.9%). The increase in incidence ceased in youngest children