Physical growth and development characteristics of children with Williams syndrome aged 0–24 months in Zhejiang Province

2019 ◽  
Vol 32 (3) ◽  
pp. 233-237 ◽  
Author(s):  
Dan Yao ◽  
Chai Ji ◽  
Weijun Chen ◽  
Mingyan Li ◽  
Zheng-Yan Zhao

Abstract Background The objective of this study was to evaluate the physical growth and development characteristics of children with Williams syndrome (WS) aged 0–24 months, and provide help for early diagnosis of WS. Methods A total of 32 cases of children (17 males and 15 females) aged 0–24 months who were diagnosed with WS were enrolled between 2008 and 2017. These children were divided into four different groups: 1–6 months (six cases), 7–12 months (eight cases), 12–18 months (nine cases) and 19–24 months (nine cases). Meanwhile, a total of 32 healthy children (17 males and 15 females) were enrolled in the study from the Department of Health Care for physical examination in our hospital as the control group and matched with each divided group. Weight and height were measured, and meanwhile birth weight and height were also asked and recorded. Results There was no statistically significant difference in birth height between the two groups (p>0.05), and birth weight and the height and weight of the children with WS in the four groups were significantly lower than those of the children in the normal control (NC) group (p>0.05). When the corresponding age of WS children was compared to the Nine City Growth Curve Standards in China, 97% of cases were lagging behind in physical growth and development. Conclusions WS children often have the features of early slow physical growth, which provides certain help for the early diagnosis of WS. Therefore, for younger children, facial features combined with an accurate and objective physical growth assessment and ultrasonic cardiogram can greatly improve the screening rate.

2019 ◽  
Author(s):  
Karolina Pieniawska-Śmiech ◽  
Kamil Bar ◽  
Mateusz Babicki ◽  
Karol Śmiech ◽  
Aleksandra Lewandowicz-Uszyńska

Abstract Background Primary immunodeficiences (PIDs) are a group of chronic, serious disorders in which the immune response is insufficient. In consequence, it leads to an increased susceptibility to infections. Up to date, there are about 300 different disorders classified in that group. There are also patients suffering from recurrent respiratory tract infections (RRTI), however that group doesn't present any abnormalities in terms of conducted immunological tests. Many factors, including medical, can have an impact on physical development of a child. Data such as birth weight and length, also weight, height, BMI during admission to the hospital were collected from 207 patients' medical histories from their hospitalization at Clinical Immunology and Paediatrics ward of J.Gromkowski Hospital in Wrocław. Investigated groups included patients with PIDs, RRTI and a control group of healthy children. Our purpose was to evaluate the physical growth of children with primary immunodeficiency (PID) and children with recurrent respiratory tract infections (RRTI) by assessment of their height and weight. All of parameters were evaluated using centile charts suitable best for the Polish population. Results The lowest mean birth weight and height was found among the PIDs patients group. Children with PIDs during hospitalization had statistically relevant lower mean weight than the control group and almost 20% of them had their height situated below 3rd percentile. No statistically relevant differences have been found between them and RRTI group. The statistically significant difference was between the nutritional status of PID patients and the control group. Conclusions There is a higher percentage of PID patients with physical growth abnormalities in comparison to healthy children. Our findings indicate a need for further investigation of immune system irregularities and their influence on physical growth of children.


2019 ◽  
Author(s):  
Karolina Pieniawska-Śmiech ◽  
Kamil Bar ◽  
Mateusz Babicki ◽  
Karol Śmiech ◽  
Aleksandra Lewandowicz-Uszyńska

Abstract Background Primary immunodeficiences (PIDs) are a group of chronic, serious disorders in which the immune response is insufficient. In consequence, it leads to an increased susceptibility to infections. Up to date, there are about 300 different disorders classified in that group. There are also patients suffering from recurrent respiratory tract infections (RRTI), however that group doesn't present any abnormalities in terms of conducted immunological tests. Many factors, including medical, can have an impact on physical development of a child. Data such as birth weight and length, also weight, height, BMI during admission to the hospital were collected from 207 patients' medical histories from their hospitalization at Clinical Immunology and Paediatrics ward of J.Gromkowski Hospital in Wrocław. Investigated groups included patients with PIDs, RRTI and a control group of healthy children. Our purpose was to evaluate the physical growth of children with primary immunodeficiency (PID) and children with recurrent respiratory tract infections (RRTI) by assessment of their height and weight. All of parameters were evaluated using centile charts suitable best for the Polish population. Results The lowest mean birth weight and height was found among the PIDs patients group. Children with PIDs during hospitalization had statistically relevant lower mean weight than the control group and almost 20% of them had their height situated below 3rd percentile. No statistically relevant differences have been found between them and RRTI group. The statistically significant difference was between the nutritional status of PID patients and the control group. Conclusions There is a higher percentage of PID patients with physical growth abnormalities in comparison to healthy children. Our findings indicate a need for further investigation of immune system irregularities and their influence on physical growth of children.


2020 ◽  
Author(s):  
Karolina Pieniawska-Śmiech ◽  
Kamil Bar ◽  
Mateusz Babicki ◽  
Karol Śmiech ◽  
Aleksandra Lewandowicz-Uszyńska

Abstract Background: Primary immunodeficiences (PIDs) are a group of chronic, serious disorders in which the immune response is insufficient. In consequence, it leads to an increased susceptibility to infections. Up to date, there are about 350 different disorders classified in that group. There are also patients suffering from recurrent respiratory tract infections (RRTI), however that group doesn't present any abnormalities in terms of conducted immunological tests. Many factors, including medical, can have an impact on physical development of a child. Data such as birth weight and length, also weight, height, BMI during admission to the hospital were collected from 195 patients' medical histories from their hospitalization at Clinical Immunology and Paediatrics Ward of J.Gromkowski Hospital in Wrocław. Investigated groups included patients with PIDs, RRTI and a control group of healthy children. Our purpose was to evaluate the physical growth of children with PID and children with RRTI by assessment of their height and weight. All of parameters were evaluated using centile charts, suitable best for the Polish population. Results: The lowest mean birth weight and height was found among the PIDs patients group. Children with PIDs during hospitalization had statistically relevant lower mean weight than the control group and almost 18% of them had their height situated below 3rd percentile. The statistically relevant differences have been found between them and RRTI group in terms of weight, height and nutritional status. The statistically significant difference was detected between the nutritional status of PID and control group. Conclusions: There is a higher percentage of PID patients with physical growth abnormalities in comparison to healthy children. Our findings indicate a need for further investigation of immune system irregularities and their influence on physical growth of children.


2019 ◽  
Author(s):  
Karolina Pieniawska-Śmiech ◽  
Kamil Bar ◽  
Mateusz Babicki ◽  
Karol Śmiech ◽  
Aleksandra Lewandowicz-Uszyńska

Abstract Background Primary immunodeficiences (PIDs) are a group of chronic, serious disorders in which the immune response is insufficient. In consequence, it leads to an increased susceptibility to infections. Up to date, there are about 300 different disorders classified in that group. There are also patients suffering from recurrent respiratory tract infections (RRTI), however that group doesn't present any abnormalities in terms of conducted immunological tests. Many factors, including medical, can have an impact on physical development of a child. Data such as birth weight and length, also weight, height, BMI during admission to the hospital were collected from 207 patients' medical histories from their hospitalization at Clinical Immunology and Paediatrics ward of J.Gromkowski Hospital in Wrocław. Investigated groups included patients with PIDs, RRTI and a control group of healthy children. Our purpose was to evaluate the physical growth of children with PID and children with RRTI by assessment of their height and weight. All of parameters were evaluated using centile charts suitable best for the Polish population. Results The lowest mean birth weight and height was found among the PIDs patients group. Children with PIDs during hospitalization had statistically relevant lower mean weight than the control group and almost 20% of them had their height situated below 3rd percentile. No statistically relevant differences have been found between them and RRTI group. The statistically significant difference was between the nutritional status of PID patients and the control group. Conclusions There is a higher percentage of PID patients with physical growth abnormalities in comparison to healthy children. Our findings indicate a need for further investigation of immune system irregularities and their influence on physical growth of children.


2019 ◽  
Author(s):  
Karolina Pieniawska-Śmiech ◽  
Kamil Bar ◽  
Mateusz Babicki ◽  
Karol Śmiech ◽  
Aleksandra Lewandowicz-Uszyńska

Abstract Background Primary immunodeficiences (PIDs) are a group of chronic, serious disorders in which the immune response is insufficient. In consequence, it leads to an increased susceptibility to infections. Up to date, there are about 300 different disorders classified in that group. There are also patients suffering from recurrent respiratory tract infections (RRTI), however that group doesn't present any abnormalities in terms of conducted immunological tests. Many factors, including medical, can have an impact on physical development of a child. Data such as birth weight and length, also weight, height, BMI during admission to the hospital were collected from 207 patients' medical histories from their hospitalization at Clinical Immunology and Paediatrics ward of J.Gromkowski Hospital in Wrocław. Investigated groups included patients with PIDs, RRTI and a control group of healthy children. Our purpose was to evaluate the physical growth of children with PID and children with RRTI by assessment of their height and weight. All of parameters were evaluated using centile charts suitable best for the Polish population. Results The lowest mean birth weight and height was found among the PIDs patients group. Children with PIDs during hospitalization had statistically relevant lower mean weight than the control group and almost 20% of them had their height situated below 3rd percentile. No statistically relevant differences have been found between them and RRTI group. The statistically significant difference was between the nutritional status of PID patients and the control group. Conclusions There is a higher percentage of PID patients with physical growth abnormalities in comparison to healthy children. Our findings indicate a need for further investigation of immune system irregularities and their influence on physical growth of children.


2019 ◽  
Author(s):  
Karolina Pieniawska-Śmiech ◽  
Kamil Bar ◽  
Mateusz Babicki ◽  
Karol Śmiech ◽  
Aleksandra Lewandowicz-Uszyńska

Abstract Background Primary immunodeficiences (PIDs) are a group of chronic, serious disorders in which the immune response is insufficient. In consequence, it leads to an increased susceptibility to infections. Up to date, there are about 300 different disorders classified in that group. There are also patients suffering from recurrent respiratory tract infections (RRTI), however that group doesn't present any abnormalities in terms of conducted immunological tests. Many factors, including medical, can have an impact on physical development of a child. Data such as birth weight and length, also weight, height, BMI during admission to the hospital were collected from 207 patients' medical histories from their hospitalization at Clinical Immunology and Paediatrics ward of J.Gromkowski Hospital in Wrocław. Investigated groups included patients with PIDs, RRTI and a control group of healthy children. Our purpose was to evaluate the physical growth of children with PID and children with RRTI by assessment of their height and weight. All of parameters were evaluated using centile charts suitable best for the Polish population. Results The lowest mean birth weight and height was found among the PIDs patients group. Children with PIDs during hospitalization had statistically relevant lower mean weight than the control group and almost 20% of them had their height situated below 3rd percentile. No statistically relevant differences have been found between them and RRTI group. The statistically significant difference was between the nutritional status of PID patients and the control group. Conclusions There is a higher percentage of PID patients with physical growth abnormalities in comparison to healthy children. Our findings indicate a need for further investigation of immune system irregularities and their influence on physical growth of children.


2020 ◽  
Author(s):  
Karolina Pieniawska-Śmiech ◽  
Kamil Bar ◽  
Mateusz Babicki ◽  
Karol Śmiech ◽  
Aleksandra Lewandowicz-Uszyńska

Abstract Background Primary immunodeficiences (PIDs) are a group of chronic, serious disorders in which the immune response is insufficient. In consequence, it leads to an increased susceptibility to infections. Up to date, there are about 300 different disorders classified in that group. There are also patients suffering from recurrent respiratory tract infections (RRTI), however that group doesn't present any abnormalities in terms of conducted immunological tests. Many factors, including medical, can have an impact on physical development of a child. Data such as birth weight and length, also weight, height, BMI during admission to the hospital were collected from 207 patients' medical histories from their hospitalization at Clinical Immunology and Paediatrics ward of J.Gromkowski Hospital in Wrocław. Investigated groups included patients with PIDs, RRTI and a control group of healthy children. Our purpose was to evaluate the physical growth of children with PID and children with RRTI by assessment of their height and weight. All of parameters were evaluated using centile charts suitable best for the Polish population. Results The lowest mean birth weight and height was found among the PIDs patients group. Children with PIDs during hospitalization had statistically relevant lower mean weight than the control group and almost 20% of them had their height situated below 3rd percentile. No statistically relevant differences have been found between them and RRTI group. The statistically significant difference was between the nutritional status of PID patients and the control group. Conclusions There is a higher percentage of PID patients with physical growth abnormalities in comparison to healthy children. Our findings indicate a need for further investigation of immune system irregularities and their influence on physical growth of children.


2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Melek Pehlivan ◽  
Tülay K. Ayna ◽  
Maşallah Baran ◽  
Mustafa Soyöz ◽  
Aslı Ö. Koçyiğit ◽  
...  

Abstract Objectives There are several hypotheses on the effects of the rs1738074 T/C single nucleotide polymorphism in the TAGAP gene; however, there has been no study on Turkish pediatric patients. We aimed to investigate the association of celiac disease (CD) and type 1 diabetes mellitus (T1DM) comorbidity with the polymorphism in the TAGAP gene of Turkish pediatric patients. Methods Totally, 127 pediatric CD patients and 100 healthy children were included. We determined the polymorphism by the allele-specific polymerase chain reaction method. We used IBM SPSS Statistics version 25.0 and Arlequin 3.5.2 for the statistical analyses. The authors have no conflict of interest. Results It was determined that 72% (n=154) of only CD patients had C allele, whereas 28% (n=60) had T allele. Of the patients with celiac and T1DM, 42.5% (n=17) and 57.5% (n=23) had T and C alleles, respectively. Of the individuals in control group, 67% (n=134) had C allele, whereas 33% (n=66) had T allele. Conclusions There was no significant difference in the genotype and allele frequencies between the patient and control groups (p>0.05). There was no significant association between the disease risk and the polymorphism in our study group.


Author(s):  
Elif Karatoprak ◽  
Samet Paksoy

AbstractThe aim of this study was to investigate the thyroid functions in children receiving levetiracetam or valproate monotherapy. We retrospectively reviewed the records of children with controlled epilepsy receiving valproic acid (VPA group) or levetiracetam monotherapy (LEV group) for at least 6 months. Free thyroxine 4 levels (fT4) and thyroid stimulating hormone (TSH) levels were compared between VPA group, LEV group, and age- and gender-matched healthy children (control group). A total of 190 children were included in the study: 63 were in the VPA, 60 in the LEV, and 67 in the control group. Although there was no significant difference regarding average fT4 levels, higher TSH levels were found in the VPA group when compared with the LEV and control groups (p < 0.001 and p < 0.001, respectively). There was no significant difference in terms of fT4 and TSH values in the LEV group when compared with the control group (p = 0.56 and p = 0.61, respectively). Subclinical hypothyroidism (defined as a TSH level above 5 uIU/mL with a normal fT4 level was detected in 16% of patients in the VPA group, none in the LEV and control groups. Our study found that VPA therapy is associated with an increased risk of subclinical hypothyroidism while LEV had no effect on thyroid function tests.


2014 ◽  
Vol 86 (3) ◽  
pp. 212 ◽  
Author(s):  
Orhan Koca ◽  
Mehmet Akyüz ◽  
Bilal Karaman ◽  
Zeynep Yesim Özcan ◽  
Metin Öztürk ◽  
...  

Objectives: Nocturnal enuresis (NE) is very common and is one of the most common causes for patients to be admitted to urology, pediatrics, child psychiatry and child surgery departments. We aimed to investigate the effect on depression and self-esteem of this disorder that can cause problems on person's social development and human relations. Material and methods: 90 patients who were admitted to our clinic with complaints of nocturnal enuresis were enrolled. Investigations to rule out organic causes were performed in this group of patients. Out of them 38 children and adolescents (age range 8-18 years) with primary monosymptomatic nocturnal enuresis (PMNE) agreed to participate in the study In the same period 46 healthy children and adolescents with a similar age range without bed wetting complaint were included in the study as a control group. The age of the family, educational and socioeconomic level were questioned and Piers-Harris Children's Self-Concept Scale (PHCSCS) and Children's Depression Inventory (CDI) forms were filled out. Results: Mean age of the cases (18 females or 47.4% and 20 males or 52.6%) was 10.76 ± 3.82 years whereas mean age of controls (26 females or 56.5% and 20 males or 43.5%) was 10.89 ± 3.11 years. Depression scale was significantly higher (p = 0.001) in the case group than in the control group (10.42 ± 4.31 vs 7.09 ± 4.35). In both groups there was no statistically significant difference by age and sex in terms of depression scale (p &gt; 0.05). Conclusion: NE is widely seen as in the community and is a source of stresses either for children and for their families. When patients were admitted to physicians for treatment, a multidisciplinary approach should be offered and the necessary psychological support should be provided jointly by child psychiatrists and psychologists.


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