The importance of cancer prevention policies to inform and guide preventative and screening measures for people with intellectual disabilities: The COST project "Cancer- Understanding Prevention in Intellectual Disabilities".

Cancer is a global public health problem, but its exact prevalence in people with intellectual disabilities is still uncertain. This population, with limited health skills and complex health needs, faces many challenges in cancer prevention, screening, timely diagnosis and treatment. Furthermore, they are often underrepresented in general cancer prevention and screening policies across Europe, leading to widened disparities in health outcomes and premature mortality. Thus, unified national and local policies are needed to reduce inequalities and promoting a pan-European inclusion of people with intellectual disabilities. Our goal is to raise public awareness of this issue, including the involvement of people with intellectual disabilities, and promote engagement from relevant stakeholders. The COST Action 'Cancer- Understanding Prevention in Intellectual Disabilities' (CUPID) project will address health inequalities faced by people with intellectual disabilities in relation to cancer, and support the development of policy recommendations specifically tailored to their unique cognitive and healthcare needs, having a positive long-term impact on quality of life.

Understanding the Relationship between Distress Behaviour and Health Status of People with Autism Spectrum Disorder.

Autism Spectrum Disorder (ASD) is associated with complex distress and challenging behaviours that have a negative impact on the everyday life of those with ASD, as well as their parents and carers. These challenging behaviours include negative emotional behaviours, motor behaviours, and changes in routines. Even though challenging behaviours occur in most subjects with ASD, the cause of these largely remains unknown. It has been implicated that these challenging behaviours are associated with a change in the health of those with ASD. More research needs to be conducted that can establish a direct association. Towards this goal, the present study aimed to explore whether health status had an impact on the distressing behaviour in the subjects diagnosed with ASD. We analysed the response from the parents/carers in a Macedonian population of those with ASD, to determine which challenging behaviours were most likely to be observed during a change in health. Based on a scoring system, the manifestation of challenging behaviour was evaluated and compared with the changes in health. Changes in appetite or dietary preferences, irritability and low mood, and loss of previously acquired skills had the greatest association with a change in health. These findings provide early insight into types of challenging behaviours that are directly associated with a change in health. Our results demonstrate a relationship between health status and challenging behaviour in the subject with autism, suggesting that caregivers may need to consider this when choosing strategies for managing challenging behaviour.

Systemic and Ophthalmic Manifestations in Different Types of Refractive Errors in Patients with Down Syndrome.

Background and Objective: This study aims to investigate the prevalence of systemic and ophthalmic manifestations in different refractive groups in children and young adults with Down syndrome (DS). Materials and Methods: The study was a population-based, cross-sectional study that included 141 Caucasian children and young adults with DS. They were classified into the following three groups: myopia DS group (37 subjects, mean age 15.8 years), emmetropia DS group (41 subjects, mean age 11.7 years) and hyperopia DS group (63 subjects, mean age 10.9 years). The participants underwent inspection, slit-lamp examination, cycloplegic refraction, ocular alignment and ocular motility examination. Ten systemic manifestations were analyzed. Results: There was no difference in the prevalence of any systemic manifestations between the groups. Considering the ophthalmic manifestations, there was statistical difference in the distribution of proportions among the three groups for nystagmus (p = 0.011), iris-stromal atrophy (p = 0.048) and strabismus (p = 0.031). The prevalence of strabismus in our DS myopia group was 35.1%, and in DS hyperopia group 38.1%. Conclusions: The results of our study suggest that DS children and young adults with any refractive error do not have a higher chance of additional systemic manifestations. Myopia in DS was associated with a higher prevalence of nystagmus and iris stromal atrophy, whereas astigmatism was found to be more frequent in hyperopia.

Personality, Anxiety, and Stress in Patients with Small Intestine Bacterial Overgrowth Syndrome. The Polish Preliminary Study.

OBJECTIVE: Small intestinal bacterial overgrowth (SIBO) syndrome is associated with depression and anxiety. This study aimed to examine for the first time the correlation between personality traits, situational anxiety, and stress in Polish patients with SIBO. METHODOLOGY: This study included 26 patients with SIBO aged 20-35 years and 24 non-SIBO patients aged 20-35 years. The following instruments were used: NEO-FFI Personality Inventory, KPS Sense of Stress Questionnaire, and the anxiety-state subscale from the State-Trait Anxiety Inventory (STAI). RESULTS: Compared to the non-SIBO subgroup, SIBO patients expressed specific patterns of personality traits: higher neuroticism, lower extroversion, and a higher state of anxiety and stress. Unlike the non-SIBO subgroup, stress (total emotional tension, external, and intrapsychic) correlated negatively only with extroversion. CONCLUSIONS: Personality is the primary regulator of experience and behavior. The specificity captured in the research is a premise for an in-depth study considering various psychological variables to determine cause-effect relationships.

Effects of a Computer-Based Intervention on Emotion Understanding in Children with Autism Spectrum Conditions.

This randomized controlled study evaluated a computer-based intervention on emotion understanding in 32 children with autism spectrum conditions with and without intellectual disability (ID) aged 7-15 years. The intervention group (n = 16) used the program for 12 h while the control group (n = 16) was not included in any intervention or training beside the usual educational curriculum. After controlling for pre-intervention scores and symptom severity, strong positive effects were observed in emotion recognition from real face photographs and pictograms, as well as in understanding situation-based emotion across both intellectual ability groups. The typical and ID intervention groups performed significantly better on all EU measures, compared to controls, at the level of feature based distant generalization.

Preliminary Results of the Macedonian-Adapted Version of Ages and Stages Developmental Questionnaires.

CONTEXT: Early detection of developmental problems is critical, and interventions are more effective when they are carried out early in a child's life. In Macedonia, there are only four centers providing early intervention services. AIMS: In this research, we determined the reliability of the translation and adaptation of Ages and Stages Questionnaires 3rd edition (ASQ-3-M) for assessment of children aged 3-5 years old in Macedonia, and reported preliminary results of the gender differences in the development. MATERIALS AND METHODS: ASQ-3-M was completed by 165 parents and 40 educators in seven kindergarten classrooms. Children were 3-5 years old. STATISTICAL ANALYSIS USED: Cronbach's alpha, Intraclass Correlation coefficient (ICC), and interrater reliability (IRR) were used to assess ASQ-3-M psychometric properties. The Bayesian t-test was performed to estimate the difference in means between males and females. RESULTS: The Cronbach's alpha ranged from 0.65 to 0.87. The overall ICC was 0.89 (ranged from 0.8 to 0.95), which indicates a strong to almost perfect strength of agreement between test-retest. IRR correlation revealed an average of 0.88 (ranged from 0.74 to 0.95), suggesting that ASQ-3-M is reliable and stable. CONCLUSIONS: The results from the comparison between males and females on all dimensions of ASQ-3-M were not statistically significant (BF10 <3), indicating no significant gender difference. That said, the ASQ-3 is recommended for routine use in screening children aged 3-5 years old.

A Pilot Study of a Behavioral Parent Training in the Republic of Macedonia.

Parenting children with autism in countries with limited professional and financial resources can be overwhelming. Parent training led by non-governmental organizations may help alleviate some of these burdens. The present pilot study was conducted in the Republic of Macedonia, a country located in Southeastern Europe. The purpose of the study was to evaluate a parent training model for disseminating evidence-based practices through didactic and pyramidal training strategies. Results indicated that children improved on a number of different behaviors and results provide some evidence that parenting confidence and distress improved.

Ophthalmic manifestations in children and young adults with Down syndrome and congenital heart defects.

PURPOSE: To investigate whether different types of ocular manifestations are associated with congenital heart disease (CHD) in a large Caucasian population of children and young adults with Down syndrome (DS). METHODS: Population-based, case-control study which included 185 subjects with DS (mean age 13.2 ± 7.9 years), who reported presence or absence of CHD; DS with CHD group (51 subjects, mean age 10.6 ± 5.6 years) and DS without CHD (134 subjects, mean age 14.2 ± 8.4 years). RESULTS: In our sample with DS and CHD, strabismus was found in 15 subjects (29.4%), nystagmus in 1 (2.0%), epiblepharon in 21 (41.2%) and Brushfield spots in 15 (31.3%). In the DS without CHD group, strabismus was found in 38 participants (28.4%), nystagmus in 13 (9.7%), epiblepharon in 31 (23.5%) and Brushfield spots in 21 (16.0%). Only the variables epiblepharon and presence of Brushfield spots differed significantly between the two groups (p = 0.02 and p = 0.03, respectively). Hyperopia was present in 26 participants (53.1%) in the DS with CHD group, and in 65 (57.0%) in the DS without CHD group. Oblique astigmatism was present in 25 (52.1%) in the DS with CHD group and in 61 (53.5%) in the DS without CHD group. CONCLUSIONS: Frequencies of DS participants presenting with strabismus, nystagmus, hyperopia and oblique astigmatism were not statistically different between those with CHD and those without CHD in this sample. Further studies are needed to confirm if there are associations between the presence of Brushfield spots or epiblepharon and CHD in patients with DS.

Strabismus, refractive errors and nystagmus in children and young adults with Down syndrome.

PURPOSE: The aims of the present population-based, cross-sectional study were to examine the frequency and type of strabismus, refractive errors and nystagmus in children and young adults with Down syndrome (DS) in Macedonia and Croatia. METHODS: A total of 170 unselected children and young adults with DS aged 1-34 years were examined for ocular findings. The ocular examination included: a visual acuity assessment, cycloplegic refraction, ocular alignment and ocular motility. RESULTS: Strabismus was found in 45 of 170 children (26.5%), and esodeviation was the most common type. Nine (20%) had exodeviation and 4 (8.9%) vertical deviation. In 27 of 32 esotropic patients, the strabismus was regarded as acquired esodeviations. The frequency of strabismus was lowest in the high-grade hyperopia group (5%). Concerning esodeviations, fewer cases (3%) were in the high-grade hyperopia group. Most of the cases with esodeviations were in correlation with low-grade hyperopia (31%), myopia (28 %) and emetropia (16%). Hyperopia was the most common refractive error and high myopia increased in prevalence in the over 20 age group. Astigmatism was present in 72.4% of patients. Nystagmus was observed in 18 patients. Ten of 18 patients with nystagmus were associated with the presence of strabismus (9 esodeviations, 1 exotropia). CONCLUSION: In our study, the high prevalence of strabismus can not be attributed to the presence of hyperopia. Our data show no association between refraction and strabismus in children with DS. Oblique astigmatism has been found to be the most common type of astigmatism in our study group.

Refractive errors in children and young adults with Down's syndrome.

PURPOSE: Down's syndrome (DS) is the most common chromosomal anomaly. Numerous ophthalmic features have been reported. The aim of our study was to investigate the incidence of refractive errors in children and young adults with DS in Macedonia. METHODS: Fifty-six children and young adults with DS, aged 2-28 years, from Macedonia, underwent slit-lamp examination, ocular motility and refraction. RESULTS: The overall incidence of refractive errors in the Macedonian children and young adults with DS was 96.4%. A total of 17.8% of the subjects had myopia, 23.2% had hypermetropia and 55.3% had astigmatism. Strabismus was seen in 13 (23.2%) of the subjects (nine had esotropia, three had exotropia, one had hypertropia). CONCLUSIONS: The incidence of refractive errors in Macedonian children and young adults with DS was similar to that in Asian children. Compared with White (Caucasian) and Asian children with DS, Macedonian children and young adults exhibited lower incidences of hypermetropia and myopia, and a higher incidence of astigmatism, in which oblique astigmatism represented the predominant type.

Family analysis of immunoglobulin classes and subclasses in children with autistic disorder.

Autistic disorder is a severe neurodevelopment disorder characterized by a triad of impairments in reciprocal social interaction, verbal and nonverbal communication, and a pattern of repetitive stereotyped activities, behaviours and interests. There are strong lines of evidence to suggest that the immune system plays an important role in the pathogenesis of autistic disorder. The aim of this study was to analyze quantitative plasma concentration of immunoglobulin classes, and subclasses in autistic patients and their families. The investigation was performed retrospectively in 50 persons with autistic disorder in the Republic of Macedonia. Infantile autistic disorder was diagnosed by DSM-IV and ICD-10 criteria. Plasma immunoglobulin classes (IgM, IgA, and IgG) and subclasses (IgG1, IgG2, IgG3, and IgG4) were determined using Nephelometer Analyzer BN-100. Multiple comparisons for the IgA variable have shown statistically significant differences between three pairs: male autistic from the fathers (p = 0,001), female autistic from the mothers (p = 0,008), as well as healthy sisters from the fathers (p = 0,011). Statistically significant differences found between three groups regarding autistic disorder (person with autistic disorder, father/mother of a person with autistic disorder, and brother/sister) independent of sex belongs to IgA, IgG2, and IgG3 variables. Multiple comparisons for the IgA variable have shown statistically significant differences between children with autistic disorder from the fathers and mothers (p < 0,001), and healthy brothers and sisters from the fathers and mothers (p < 0,001). Comparison between healthy children and children with autistic disorder from the same family should be tested for immunoglobulin classes and subclasses in order to avoid differences between generations.

Plasma concentration of immunoglobulin classes and subclasses in children with autism in the Republic of Macedonia: retrospective study.

AIM: To examine plasma concentration of IgA, IgM, IgG classes, and IgG1, IgG2, IgG3, and IgG4 subclasses in children with autism. METHODS: Infantile autism was diagnosed by the Diagnostic and Statistical Manual for Mental Disorders (DSM)-IV and the International Classification of Diseases (ICD)-10 criteria. Plasma samples were collected from 35 autistic subjects, and their 21 siblings (biological brothers and sisters) who served as healthy controls. Plasma samples were separated by centrifugation and stored at -20 degrees C until the determination. Plasma immunoglobulin classes (IgM, IgA, IgG) and subclasses (IgG1, IgG2, IgG3, IgG4) were determined using a nephelometer. RESULTS: Plasma concentrations (mean+/-standard deviation) of IgM and IgG in autistic children (1.36+/-0.31 g/L and 13.14+/-1.27 g/L, respectively) were significantly higher (p=0.031 and p=0.023, respectively) in comparison with their healthy brothers or sisters (1.20+/-0.15 g/L and 12.39+/-0.96 g/L, respectively). Children with autism had significantly higher plasma concentrations of IgG4 (p<0.001) compared to their siblings (healthy brothers or sisters). Plasma concentration of IgA, IgG1, IgG2, and IgG3 were similar in autistic children and their healthy brothers or sisters. Increased plasma concentration of IgG1 was found (p=0.027) in autistic males (8.06+/-2.40), as compared with their healthy brothers (5.24+/-4.13 g/L). Plasma concentrations of IgG (14.28+/-3.66 g/L), and IgG1 (9.41+/-2.20 g/L) in autistic females were increased (p=0.012 and p=0.021, respectively) in comparison with IgG (11.07+/-2.07) and IgG1 (6.37+/-3.38 g/L) in their healthy sisters. CONCLUSION: Children with autism have increased plasma concentration of immunoglobulines. Increased immunoglobulines in children with autism could be a result of impaired development of the immune system, and/or genetic factors connected with defense mechanism in these children.