Cognitive and Behavioral Profiles of Children with Aspartylglucosaminuria: A Case Series

2021 ◽  
Author(s):  
Louise M. Crowe ◽  
Amy Brown ◽  
Heidi Peters
Keyword(s):  
Behavioral Problems ◽  
Cognitive Skills ◽  
Case Series ◽  
Autosomal Recessive Inheritance ◽  
Lysosomal Storage ◽  
Behavioral Profiles ◽  
Full Scale Intelligence Quotient ◽  
Body Tissues ◽  
And Behavior ◽  
Short Time

AbstractAspartylglucosaminuria (AGU) is a rare lysosomal storage disorder with an autosomal recessive inheritance. It affects the aspartylglucosaminidase (AGA) gene and causes a deficiency in activity of the enzyme N-aspartyl-β-glucosaminidase with resultant accumulation of glycoasparagines in body tissues. Children with AGU present with developmental delays in cognitive and language skills. Currently, information on cognition and behavior of children with AGU is limited. This case series presents the neuropsychological and behavioral profiles of three children with AGU assessed at two time points. All the three children had full-scale intelligence quotient (IQ) scores in the intellectual disabled range (<70). IQ had declined since their previous cognitive assessment 1 to 2 years prior. Other cognitive skills were significantly below expected levels. Parents reported several behavioral problems and adaptive difficulties. The findings challenge current beliefs that cognition is impaired but stable in children with declines seen in a short time.

scholarly journals Mucopolysaccharidosis Type II: A Kenyan Case Series

2021 ◽  
Vol 2021 ◽  
pp. 1-4
Author(s):  
L. N. Wainaina Mungai ◽  
C. M. Njeru ◽  
L. A. Nyamai ◽  
M. Maina
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Metabolic Diseases ◽  
Central Nervous System Involvement ◽  
Case Series ◽  
Hunter Syndrome ◽  
Mucopolysaccharidosis Type ◽  
Lysosomal Storage ◽  
Multiple Organs ◽  
Body Tissues

Hunter syndrome, or mucopolysaccharidosis type 2 (MPS2), is a lysosomal storage disorder associated with the involvement of multiple organs such as the central nervous system, hepatomegaly, musculoskeletal, respiratory, cardiac, and hearing. This is due to the accumulation of glycosaminoglycans in body tissues leading to organ failure. Since the laboratories in Kenya do not screen for metabolic diseases, there is the likelihood of assumption that these patients do not exist. These first cases were referred from the eastern part of Kenya where the majority of inhabitants are from the same ethnic community. It was noted that there was increased mortality among boys below the age of 20 years, and hence, the families sought for help in the national referral and teaching hospital. The case series is meant to show that these cases exist and the majority of the patients may be dying before the diagnosis is made. There are no data on MPS2 from Kenya, and the prevalence and incidence are unknown. In this retrospective study, we present a case series of 6 Kenyan boys with MPS2 from a national referral hospital. They were part of 17 patients who had had their blood analyzed for metabolic diseases. All of them were symptomatic with varying degrees of central nervous system involvement. They had undetectable levels of iduronate-2-sulfatase (I2S) enzyme, and three genetic mutations were detected in the IDS gene.

Practicing Academic Independence: Self-Regulation Strategies for Students with Emotional and Behavioral Disorders

2021 ◽  
pp. 107429562110206
Author(s):  
Michele L. Moohr ◽  
Kinga Balint-Langel ◽  
Jonté C. Taylor ◽  
Karen L. Rizzo
Keyword(s):  
Behavioral Disorders ◽  
Cognitive Skills ◽  
Emotional And Behavioral Disorders ◽  
Self Regulation ◽  
Strategy Instruction ◽  
Strategy Development ◽  
Academic Learning ◽  
Self Monitoring ◽  
Regulation Strategies ◽  
And Behavior

The term self-regulation (SR) refers to a set of specific cognitive skills necessary for students to independently manage, monitor, and assess their own academic learning and behavior. Students with and at risk for emotional and behavioral disorders (EBD) often lack these skills. This article provides educators with step-by-step procedures and information on three research- or evidence-based SR strategies they can implement in their classrooms: self-regulated strategy development, self-monitoring, and strategy instruction.

scholarly journals Platypnoea–orthodeoxia syndrome induced by short-term weight loss: a case series

2020 ◽  
Author(s):  
Yudai Tamura ◽  
Tomohiro Sakamoto
Keyword(s):  
Weight Loss ◽  
Septal Defect ◽  
Case Series ◽  
Transoesophageal Echocardiography ◽  
Sitting Position ◽  
Short Time Period ◽  
Time Period ◽  
Uncommon Condition ◽  
The Right ◽  
Short Time

Abstract Background Platypnoea–orthodeoxia syndrome (POS) is an uncommon condition characterized by dyspnoea and arterial desaturation in the standing or sitting position that improves in the supine position. Case summary We report two cases of POS caused by an atrial septal defect (ASD) and a patent foramen ovale (PFO). Both cases reported a recent decrease in body weight of more than 10 kg in a short time period. Transoesophageal echocardiography (TOE) with agitated saline bubble study revealed and a large amount of contrast bubble through the ASD (Patient 1) or the PFO (Patient 2) from the right atrium to the left atrium in the sitting position. Both patients were diagnosed by the finding of positional dyspnoea and the results of TOE using agitated saline bubble contrast. Discussion Taken together, their presentations suggest that weight loss in a short time period could be a pathogenic factor for POS.

585 The Relationship between Napping and Behavioral Problems among Vocational High School Students in China

SLEEP ◽  
2021 ◽  
Vol 44 (Supplement_2) ◽  
pp. A231-A231
Author(s):  
Jing Han ◽  
Rendong Huang ◽  
Lei Yue ◽  
Naixue Cui ◽  
Fenglin Cao
Keyword(s):  
High School ◽  
High School Students ◽  
Behavior Problems ◽  
Behavioral Problems ◽  
Internalizing Behavior ◽  
Individual Development ◽  
Vocational High School ◽  
School Students ◽  
And Behavior ◽  
The Relationship

Abstract Introduction Although napping is very common and related to the outcome of individual development, the relationship between napping and health is not the same in different social and cultural contexts. In China, napping is considered as a healthy lifestyle and is often associated with better adolescent development outcomes. As a special group of teenagers (the academic level does not meet the requirements of ordinary high school), vocational high school students have a higher incidence of behavioral problems than ordinary high school students. Therefore, the purpose of this study is to explore the characteristics of napping and its relationship with behavioral problems in vocational high school students. Methods The napping questionnaire, Youth Self Report (YSR), general information questionnaire and other tools for covariates were used to measure 2505 high school students (62.04% boys, 37.96% girls, 16.71±0.02 years), recruited by convenient sampling. The relationship between nappingand behavioral problems was analyzed by multiple linear regression. Results 72.58% of the participants reported taking a midday nap at least three days per week during the past month, and 55.79% of our sample reported naps more than 30 minutes. Multiple regression analysis showed that nap frequency was negatively associated with high school students’ behavior problems after controlling for general characteristics and other important covariates. Compared with high school students who did not nap or napped less than 1 time/week, high school students who napped 1–2 times/week or 3–4 times/week had lower level of both internalizing behavior problems and externalizing behavior problems. There was no statistically significant association between nap duration and behavior problems. Conclusion This study finds that when napping is allowed, moderate frequency of napping is associated with lower level of internalizing and externalizing behavioral problems in vocational high school students, while nap duration is not significantly associated with behavioral problems. Further research is needed to explore the mechanism of the relationship between napping and behavior problems. Support (if any):

scholarly journals Effects of an attachment-based intervention on the cortisol production of infants and toddlers in foster care

2008 ◽  
Vol 20 (3) ◽  
pp. 845-859 ◽  
Author(s):  
Mary Dozier ◽  
Elizabeth Peloso ◽  
Erin Lewis ◽  
Jean-Philippe Laurenceau ◽  
Seymour Levine
Keyword(s):  
Foster Care ◽  
Developmental Education ◽  
Cognitive Skills ◽  
Comparison Group ◽  
Control Group ◽  
Strange Situation ◽  
Initial Values ◽  
Children In Foster Care ◽  
Control Intervention ◽  
And Behavior

AbstractStudies with nonhuman primates and rodents, as well as with human children, have suggested that early separations from caregivers are often associated with changes in the functioning of the hypothalamus–pituitary–adrenal (HPA) axis. On the basis of these findings, we designed a relational intervention that was intended to normalize HPA functioning among children in foster care. This paper presents findings from a randomized clinical trial that assessed the effectiveness of a relational intervention (Attachment and Biobehavioral Catch-up [ABC]) with regard to HPA functioning. The ABC intervention was intended to enhance children's ability to regulate physiology and behavior. The control intervention (Developmental Education for Families) was intended to enhance children's cognitive skills. A comparison group of children who had never been in foster care was also included. Children's cortisol production was assessed upon arrival at the lab, and 15 and 30 min following the Strange Situation. Random effects analyses of variance were performed to assess differences in initial values and change between children in the two intervention groups. Children in the ABC intervention and comparison group children showed lower initial values of cortisol than children in the treatment control group, considering arrival at lab as initial values (p < .05). Groups did not differ significantly in change over time. These results suggest that the ABC intervention is effective in helping children regulate biology in ways more characteristic of children who have not experienced early adversity.

scholarly journals THE COVID-19 PANDEMIC AND THE CHANGES IN CONSUMER HABITS AND BEHAVIOR

2021 ◽  
Vol 18 (3) ◽  
pp. 3-25
Author(s):  
Luciene Eberle ◽  
Cleber Lemes Bausch ◽  
Gabriel Sperandio Milan ◽  
Ana Paula Graciola ◽  
Suélen Bebber
Keyword(s):  
Global Economy ◽  
Internet Security ◽  
Online Marketing ◽  
Scientific Databases ◽  
Machine Learning Methods ◽  
High Adherence ◽  
Do It Yourself ◽  
Consumer Habits ◽  
And Behavior ◽  
Short Time

In a short time, the COVID-19 pandemic transformed people’s behavior, undermining firms and businesses and changing the global economy. In this context, the study aimed to understand the impacts the COVID-19 pandemic caused on consumer behavior. The research method adopted was the literature review, investigating the Scopus and Web of Science databases, two of the main scientific databases. A total of 205 articles published in 2020 were identified, and, based on the proposed criteria, 30 studies showed high adherence to the topic and contributed to the understanding of changes in consumer habits and behavior. The main themes identified were: e-commerce growth, panic buying, repressed demand and stricken sectors, do-it-yourself, increased apps usage, machine learning methods, data internet security, and online marketing and shopping platforms.

scholarly journals How Law Student Prepare Their Life to Survive?

2020 ◽  
Vol 2 (1) ◽  
pp. 19-38
Author(s):  
Aprila Niravita ◽  
Benny Sumardiana ◽  
Bayangsari Wedhatami ◽  
Syukron Salam ◽  
Ubaidillah Kamal ◽  
...  
Keyword(s):  
Character Education ◽  
Real Life ◽  
Field Research ◽  
Law Students ◽  
State University ◽  
Student Activists ◽  
The People ◽  
Law Student ◽  
And Behavior ◽  
Short Time

Character education is an important element in the effort to prepare superior Indonesian human resources, it is of particular concern to be applied especially among students, there is a need for character education because the attitudes and behavior of the people and people of Indonesia now tend to ignore the noble values ​​of Pancasila which are highly respected and should be rooted in everyday attitudes and behaviors, values ​​such as honesty, politeness, togetherness and religious, gradually eroded by foreign cultures that tend to be hedonistic, materialistic, and individualistic, so that the noble character values ​​are ignored in the future if students and young people are not equipped with character education. Law students have their own challenges, especially in the era of globalization. This paper analyzes and illustrates the character strengthening program for law student activists in Semarang State University through several programs, namely public speaking, strengthening student idealism, strengthening advocacy capacitation and human rights assistance and self-motivation. This research is a field research with the object of research as activists of law students who are members of student organizations. This research confirms that the programs for strengthening the character of students experience several obstacles, one of which is the model used and a relatively short time. However, character education for student activists helps students to survive in real life as part of community members.

scholarly journals The effectiveness and influence of Vocal and Instrumental Improvisation in Music Therapy on children diagnosed with autism. Pilot Study.

2020 ◽  
Vol 6 (1) ◽  
pp. 153-166
Author(s):  
Sara Knapik-Szweda
Keyword(s):  
Music Therapy ◽  
Cognitive Skills ◽  
Children With Autism ◽  
Positive Outcome ◽  
Activity Relationship ◽  
Behavior Patterns ◽  
Social Emotional ◽  
Rating Form ◽  
And Behavior ◽  
Therapy Intervention

Autism is a developmental disorder which is difficult to recognize and diagnose. The present study examines the effectiveness of music therapy intervention based on improvisational techniques with the elements of Creative Music Therapy by Paul Nordoff and Clive Robbins and improvisational techniques by Tony Wigram (such as imitating, frameworking, dialogues, holding) on  developmentl of children with Autism (two boys diagnosed with autism - case 1. and case 2), especially in verbal and nonverbal communication, disturbance behavior patterns, cognitive and social-emotional areas.  The results indicate a positive outcome in two music therapy observing tools: Scale I Child – Therapist Relationship in Coactive Musical Experience Rating Form and Scale II Musical Communicativeness Rating Form. The tables indicate the intensity of interaction between the therapist and the subject during the music therapy process (including communication skills, cognitive skills and behavior patterns). The results of case 1 are indicated in Scale I and Scale II and  show a significant effect of improvisational music therapy. The important findings from the analysis of behavior in the sessions were Stability and confidence in interpersonal musical relationship, Activity relationship developing, (scale 1.). The results of the case 2. show small changes in musical behavior when it comes to Stability and confidence in interpersonal musical relationship, but in Activity relationship developing the indicators show a lot of changes between sessions. The results of the research indicate that  music therapy intervention has a positive outcome and may be an effective method to increase functioning of children with autism.

Three Patients with CPT1A Deficiency: Literature Review and Case Series

2020 ◽  
Author(s):  
Naser Ali Mirhosseini ◽  
Mahdieh Saatchi ◽  
Sana Taghiyar
Keyword(s):  
Genetic Disorder ◽  
Case Series ◽  
Autosomal Recessive Inheritance ◽  
Abnormal Liver Function Test ◽  
Medical Procedures ◽  
Main Method ◽  
Appropriate Treatment ◽  
Liver And Kidney ◽  
Renal Tubular

Background: Carnitine palmitoyltransferase 1A deficiency is a rare genetic disorder with autosomal recessive inheritance pattern of fatty acid metabolism secondary to CPT1A mutation. Several dozen infants and children have been described with a deficiency of the liver and kidney CPT1 isoenzyme (CPT1-A). Clinical manifestation includes fasting-induced hypoketotic hypoglycemia, occasionally with extremely abnormal liver function test (LFT) and rarely with renal tubular acidosis. Acyl carnitine analysis has been the main method for the diagnosis of CPT1A deficiency.  Prompt treatment of hypoglycemia includes intravenous fluid containing 10% dextrose. To prevent hypoglycemia, infants should eat frequently during the day and have cornstarch continuously at night. Fasting should not last more than 12 hours during illness, surgery, or medical procedures. Case Presentation: We reported three patients with CPT1A deficiency presented with hypoglycemia and Reye like syndrome in early childhood that with early diagnosis and treatment they are well in follow-up. Conclusion: Prognosis of this genetic disorder will be good with appropriate treatment.

Children With Adaptation and Behavior Problems

2020 ◽  
pp. 117-138
Author(s):  
Ebru Hasibe Tanju Aslişen
Keyword(s):  
Eating Disorders ◽  
Behavior Problems ◽  
Sleep Disorders ◽  
Behavioral Problems ◽  
Behavior Problem ◽  
Causal Factors ◽  
Preschool Period ◽  
Nail Biting ◽  
Thumb Sucking ◽  
And Behavior

In this chapter, the adaptation and behavior problem is explained conceptually, and detailed information is given about causal factors related to biology, family, and school. Particularly in the preschool period, adaptation and behavioral problems such as thumb-sucking, nail-biting, enuresis, encopresis, masturbation, lying, aggression, stubbornness, jealousy, fear, anxiety, stealing, sleep disorders, and eating disorders are explained in this chapter, and precautions to reduce/prevent these problems are mentioned.

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