This document summarizes a study on the emotional and behavioral characteristics of Rett syndrome based on parental reports. Some key findings include:
1) Over 75% of children experienced episodes of anxiety, often precipitated by external events such as loud noises or changes in routine. Nearly 50% engaged in self-injurious behaviors like biting fingers.
2) Low moods and mood changes were also common, reported in over 65% of children. However, sustained depressive episodes were less frequent.
3) Around 60% of children were diagnosed with epilepsy, with seizures occurring in over half within the past year. Additionally, nearly 20% of younger children experienced non-epileptic "attacks".
4)
The document discusses biological explanations for schizophrenia, including genetic factors that may lead to neurotransmitter imbalances like excess dopamine causing the disorder, as well as evidence of brain structure differences like enlarged ventricles in schizophrenic patients from brain imaging studies, though the biological explanations have various criticisms and limitations.
The document discusses various genetic studies of schizophrenia, including family, twin, and adoption studies. Family studies found an increased risk of schizophrenia in relatives of schizophrenic probands, suggesting a genetic basis. Twin studies estimated the heritability of schizophrenia to be around 80%, while adoption studies found an increased risk of schizophrenia in children adopted away from schizophrenic biological mothers. Overall, these various study designs provide strong evidence for a genetic contribution to schizophrenia.
The document discusses twin studies as a method used in psychology to understand the influence of genes and environment on behaviors and traits. Identical twins are useful to study because they share 100% of their genes. Comparing identical twins who were reared together or apart, as in adoption studies, allows researchers to determine if similarities in behaviors are due to genetic or environmental factors. The Gottesman and Shields study compared schizophrenia concordance rates in identical and fraternal twins to investigate the relative genetic and environmental influences on the disorder. The study found higher concordance in identical twins, supporting a genetic influence, but less than 100% concordance, also indicating an environmental role. Twin studies are a valuable method but have limitations such as potential bias in
The document discusses the diagnosis and conceptualization of ADHD from multiple perspectives. It notes that ADHD symptoms may represent an adaptive problem rather than a disorder, given evidence of genetic roots and neural plasticity. While diagnosis is important for communication and treatment, the classifications are temporary and shaped by current understanding, which continues to evolve with scientific advances.
WRTG 3014 - Lydia Wallace - ASD Research ReviewLydia Wallace
The document analyzes potential causes of autism spectrum disorders (ASD) in Utah, specifically the Wasatch Front region which has one of the highest ASD diagnosis rates in the nation. It finds that ASD is caused by a complex combination of genetic and environmental factors. Genetic factors like single nucleotide polymorphisms and copy number variants increase risk when combined with environmental exposures during prenatal development, like air pollutants. Studies have identified ASD "hotspots" in densely populated areas along the Wasatch Front with higher pollution levels. Both the genetic characteristics of the local population from founders and current environmental exposures may contribute to elevated ASD rates in the region.
This document discusses genetics research on schizophrenia. It provides background on why genetics are studied for schizophrenia, defines key genetic terms, and outlines the major approaches taken in genetics research on schizophrenia including family studies, twin studies, adoption studies, linkage studies, and association studies. It summarizes some of the key findings from these genetic studies, such as higher concordance rates for schizophrenia in monozygotic twins compared to dizygotic twins, indicating a genetic component. Overall, the document provides an overview of the genetics research that has been conducted to understand the biological basis and inheritance of schizophrenia.
This document reviews adoption and twin studies on schizophrenia conducted between 1967 and 1976. The studies found that adopted children with schizophrenic biological parents were more likely to develop schizophrenia than those with non-schizophrenic biological parents or adoptive parents. Twin studies also found higher concordance rates of schizophrenia in identical twins compared to fraternal twins, indicating a genetic component. However, concordance rates were below 100%, suggesting both genetic and environmental factors contribute to schizophrenia.
The document summarizes research on the relationship between childhood trauma and psychosis. It finds that childhood abuse and neglect are strongly associated with psychotic symptoms later in life, with a clear dose-response relationship. Experiencing multiple types of trauma as a child increases the likelihood of developing psychosis as an adult by a factor of 18 to 193. Theories on how childhood trauma may lead to psychosis include cognitive, psychodynamic, dissociation, and attachment-related mechanisms.
The document discusses biological explanations for schizophrenia, including genetic factors that may lead to neurotransmitter imbalances like excess dopamine causing the disorder, as well as evidence of brain structure differences like enlarged ventricles in schizophrenic patients from brain imaging studies, though the biological explanations have various criticisms and limitations.
The document discusses various genetic studies of schizophrenia, including family, twin, and adoption studies. Family studies found an increased risk of schizophrenia in relatives of schizophrenic probands, suggesting a genetic basis. Twin studies estimated the heritability of schizophrenia to be around 80%, while adoption studies found an increased risk of schizophrenia in children adopted away from schizophrenic biological mothers. Overall, these various study designs provide strong evidence for a genetic contribution to schizophrenia.
The document discusses twin studies as a method used in psychology to understand the influence of genes and environment on behaviors and traits. Identical twins are useful to study because they share 100% of their genes. Comparing identical twins who were reared together or apart, as in adoption studies, allows researchers to determine if similarities in behaviors are due to genetic or environmental factors. The Gottesman and Shields study compared schizophrenia concordance rates in identical and fraternal twins to investigate the relative genetic and environmental influences on the disorder. The study found higher concordance in identical twins, supporting a genetic influence, but less than 100% concordance, also indicating an environmental role. Twin studies are a valuable method but have limitations such as potential bias in
The document discusses the diagnosis and conceptualization of ADHD from multiple perspectives. It notes that ADHD symptoms may represent an adaptive problem rather than a disorder, given evidence of genetic roots and neural plasticity. While diagnosis is important for communication and treatment, the classifications are temporary and shaped by current understanding, which continues to evolve with scientific advances.
WRTG 3014 - Lydia Wallace - ASD Research ReviewLydia Wallace
The document analyzes potential causes of autism spectrum disorders (ASD) in Utah, specifically the Wasatch Front region which has one of the highest ASD diagnosis rates in the nation. It finds that ASD is caused by a complex combination of genetic and environmental factors. Genetic factors like single nucleotide polymorphisms and copy number variants increase risk when combined with environmental exposures during prenatal development, like air pollutants. Studies have identified ASD "hotspots" in densely populated areas along the Wasatch Front with higher pollution levels. Both the genetic characteristics of the local population from founders and current environmental exposures may contribute to elevated ASD rates in the region.
This document discusses genetics research on schizophrenia. It provides background on why genetics are studied for schizophrenia, defines key genetic terms, and outlines the major approaches taken in genetics research on schizophrenia including family studies, twin studies, adoption studies, linkage studies, and association studies. It summarizes some of the key findings from these genetic studies, such as higher concordance rates for schizophrenia in monozygotic twins compared to dizygotic twins, indicating a genetic component. Overall, the document provides an overview of the genetics research that has been conducted to understand the biological basis and inheritance of schizophrenia.
This document reviews adoption and twin studies on schizophrenia conducted between 1967 and 1976. The studies found that adopted children with schizophrenic biological parents were more likely to develop schizophrenia than those with non-schizophrenic biological parents or adoptive parents. Twin studies also found higher concordance rates of schizophrenia in identical twins compared to fraternal twins, indicating a genetic component. However, concordance rates were below 100%, suggesting both genetic and environmental factors contribute to schizophrenia.
The document summarizes research on the relationship between childhood trauma and psychosis. It finds that childhood abuse and neglect are strongly associated with psychotic symptoms later in life, with a clear dose-response relationship. Experiencing multiple types of trauma as a child increases the likelihood of developing psychosis as an adult by a factor of 18 to 193. Theories on how childhood trauma may lead to psychosis include cognitive, psychodynamic, dissociation, and attachment-related mechanisms.
The document discusses enteropathy in children in developing countries. It defines enteropathy as an acquired intestinal change seen in the absence of illness that may increase susceptibility to infection and malnutrition. While studies have found intestinal abnormalities are common, there is no consensus definition and the relationship between enteropathy, diarrhea, and malnutrition is unclear. The document calls for further research to better define enteropathy and understand its role and potential interventions.
The document summarizes genetic, environmental, neurobiological, and psychosocial factors related to schizophrenia. It discusses findings from family, twin, and adoption studies that suggest there is a genetic component. Prenatal and birth complications, winter birth, paternal age, and substance use are environmental risk factors. Neurobiologically, the document outlines evidence of decreased frontal lobe activity and changes in dopamine, glutamate, and GABA systems. Lower socioeconomic status, childhood trauma, and stressful life events are also discussed as psychosocial risk factors for developing schizophrenia.
Genetic factors contribute significantly to depression based on family, twin, and adoption studies:
1) Family studies show relatives of depression sufferers have twice to three times higher depression rates than the general population.
2) Twin studies find higher concordance rates for depression in identical twins compared to fraternal twins, supporting a genetic influence.
3) Adoption studies found biological relatives of adopted out depression sufferers were much more likely to have depression than adoptive relatives, eliminating effects of shared family environment.
This document summarizes research on predictors and long-term effects of obsessive-compulsive disorder (OCD) in youth. Several studies found that OCD symptoms can be categorized into domains and remain consistent over time, though environmental influences decrease with age. Predictors of quality of life outcomes included gender, treatment, personal evaluations of impairment, and environmental factors. Beliefs about responsibility for potential threats predicted symptom severity in youth with OCD and their mothers. Co-occurring disorders like impulse control disorders or tics were also more common and increased OCD impairment. Symptom severity, anxiety, and low well-being predicted greater parental reports of impairment in youth. The degree of distress during OCD therapy did not predict treatment outcomes as much as
Paige Terrien Church is a neonatologist and developmental pediatrician at the University of Toronto who presented on neural tube defects (NTDs). She reviewed the medical impact of NTDs in adolescence including neurosurgical issues like hydrocephalus and tethered cord syndrome, bladder and bowel complications, orthopedic issues, and medical risks. She also discussed psychosocial challenges with independence, sexuality, and family planning considerations. Her goal was to educate about lifelong complications from NTDs and minimize morbidity through prevention and optimal healthcare.
Week 5 Data Types and Gottesman and Shields 1961Jamie Davies
This document contains learning objectives and materials for lessons on schizophrenia and research methods in psychology. It includes an application task analyzing a case study of a person named Jack who has schizophrenia. It also provides information on primary and secondary data in research and examples of questions to answer about these topics. Finally, it outlines objectives and materials on the use of twin studies in examining the role of nature and nurture in schizophrenia, including objectives for understanding Gottesman and Shields' twin study on the disorder.
16. Stress And The Git Does It Cause Crohns Diseaseensteve
The document discusses the relationship between stress and Crohn's disease. It summarizes that while stress does not appear to cause Crohn's disease, stress may modulate the disease course by influencing the brain-gut axis. Stress can diminish protective intestinal factors and increase permeability through pathways like the HPA axis and sympathetic nervous system. Some studies have found an association between psychological distress levels and future Crohn's disease activity, but the evidence regarding stressful life events triggering relapse is inconsistent.
This document summarizes a research proposal that aims to test the hypothesis that childhood vaccinations cause autism. The study would examine mercury levels in the urine of children at different age groups and time intervals following the MMR vaccination, to determine if higher mercury is associated with autism. The proposal provides background on autism rates increasing, the discredited Wakefield study linking MMR and autism, and reviews previous studies on thimerosal and mercury that both support and contradict the hypothesized link to vaccinations. The proposed methodology would collect urine samples from 18 children divided into age groups around the time of first MMR vaccination, to measure mercury levels at different time points following vaccination.
This document outlines a presentation on genetics and genetic epidemiology. It begins with basics of genetics such as chromosomes, DNA structure, genes and gene expression. It then discusses study designs in genetic epidemiology including familial aggregation studies using families and twins. Methods of analysis covered include segregation analysis, linkage analysis to locate disease genes, and association analysis to identify specific genetic variants. The document provides examples of both simple and complex genetic diseases and mechanisms such as epigenetics. Key genetic concepts such as heritability, concordance rates, and linkage disequilibrium are also explained.
This document contains a case study of a 23-year-old female student experiencing progressive weakness and vision problems. Her symptoms include ptosis, double vision, difficulty chewing and using utensils, and worsening weakness throughout the day. Examination found ptosis that worsened with upward gaze and improved with eye closing. The most likely diagnosis is myasthenia gravis due to the presentation of progressive fatigability, ptosis, bulbar involvement, and reflex-sparing symptoms. Myasthenia gravis is caused by antibodies targeting nicotinic acetylcholine receptors.
Letter autismo e down jaacap s-06-00468[1]Italo Santana
This study examined the prevalence of pervasive developmental disorder (PDD) in 205 individuals with Down's syndrome in Curitiba, Brazil. The frequency of PDD was found to be 15.6%, with 5.58% having autism and 10.05% having non-autism PDD. This is higher than the 7% frequency found in a previous smaller study. The results suggest that Down's syndrome may be a risk factor for developing PDD. No significant gender differences were found between those with Down's syndrome and PDD. Higher frequencies of social disabilities were found in family members of those with both Down's syndrome and PDD.
i. OT males retrieved the banana more slowly than saline males, while OT females took it more quickly than saline females, suggesting OT heightened anxiety in males but reduced it in females.
ii. OT males balked more frequently than saline males, while OT females balked less often than saline females.
iii. The longest retrieval latencies were displayed at age 15 months, on day 1 of testing, and in response to more complex patterns.
More Than Growing Pains: An Analysis of Juvenile Arthritis Amanda Rostic, MPH
I gave this presentation in my graduate level chronic disease epidemiology class. I also wrote a corresponding research paper about juvenile arthritis.
Did you know it has been estimated that as many as 300,000 children have some form of arthritis (in the USA)?
The Naive and Sentimental DiagnosticianYanki Yazgan
Mothers and doctors have different approaches to diagnosing developmental and behavioral problems in children. Mothers take a more "naive" approach by sensing when something is wrong based on their close relationship with the child, while doctors take a more "sentimental" or reflective approach using diagnostic criteria and analyzing symptoms. These different styles are similar to the distinction Friedrich Schiller made between naive poets who write spontaneously and sentimental poets who question their work. Including impairment criteria can help narrow the prevalence of conditions like ADHD but may also risk underdiagnosis. An ideal diagnostic approach balances the naive sense of relief of stress with the sentimental search for deeper explanations, similar to how a novelist operates.
This survey was conducted by mathematics students to study Parkinson's disease. It contains 15 questions about Parkinson's disease symptoms, risk factors, treatments, and types. The questions cover topics like the age of onset, differences between men and women, common symptoms like tremors and slowed movement, the role of medications in managing symptoms, and whether lifestyle and environmental factors can impact risk. The purpose is to learn more about Parkinson's disease.
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disorder that causes the inability to feel pain or sweat. It is caused by a mutation in the NTRK1 gene which affects nerve development and signaling. People with CIPA are unable to detect injuries and often experience severe infections, bone and tissue damage, and early death due to this inability to feel pain. Case studies show common issues include deep bone infections, self-mutilation, and lack of awareness of injuries like burns. While the condition cannot be cured, treatment focuses on managing infections, wounds, and increasing awareness to try to prevent further harm and improve life expectancy.
Hydrotheraphy untuk anak Rett Syndrome (jurnal)Elya Afifah
This case report investigated the effects of hydrotherapy on an 11-year-old girl with Rett syndrome. The girl underwent hydrotherapy twice a week for 8 weeks using the Halliwick method. Her physical abilities were assessed before, during, and after the hydrotherapy sessions. The hydrotherapy reduced her stereotypical hand movements and improved her feeding skills, hand skills, walking balance, and interactions. The report concluded that hydrotherapy may decrease stereotypical movements and increase purposeful hand functions for individuals with Rett syndrome.
(Jurnal Rett Syndrome LN) Growth and nutrition in rett syndromeElya Afifah
This document summarizes a study on growth and nutrition in Rett syndrome. It discusses how feeding difficulties and growth failure commonly occur in Rett syndrome due to both nutritional and non-nutritional factors. The document reviews literature on feeding problems at different stages of swallowing that can lead to dysphagia. Data from a specialized Rett syndrome clinic shows that over 80% of patients experienced feeding issues. While growth failure is well documented, the specific mechanisms remain poorly understood and clinical management is not evidence-based.
Patricia was an orphan girl from the Tirurai ethnic group who was raised by Jose Lactaotao and his wife after his wife and children died of malaria. Patricia was then given to the narrator's wife and showed great intelligence and adaptability in learning new skills like cooking, sewing and caring for children. However, Patricia still felt drawn to her ethnic roots in the hills and would occasionally sneak off to visit. This caused conflict as her adoptive parents wanted her to pursue her education. Eventually, a Tirurai meat peddler visiting town sparked a romance with Patricia. One day he did not return for months, but when he did he had grown more masculine from hard work.
Kemampuan Berkomunikasi pada Rett Syndrome (Jurnal)Elya Afifah
This case report describes the communication abilities of a 4-year-old girl with Rett syndrome. Prior to regression around 18 months, the girl had normal speech and language development with a 3-word vocabulary. Regression occurred in stages, with loss of hand function and cognitive skills declining to a 6-7 month developmental level by age 2 years 7 months. After regression, the girl was mostly nonverbal but would vocalize and maintain eye contact during social interactions. The report aims to provide a detailed description of her current communication abilities, focusing on intentionality and functionality rather than just lists of words.
Conflicts, stress and communication within groupsEdz Gapuz
This document discusses concepts related to managing conflicts and stress within groups. It defines conflict management as processes that teach individuals how to prevent, manage and resolve conflicts non-violently. It notes that conflict is natural and how it is handled determines if it is productive or destructive. It also discusses stress, defining it as any situation that places psychological or physical demands on a person. Occupational stress is defined as harmful physical and emotional responses that occur when a job's requirements do not match an employee's capabilities.
The document discusses enteropathy in children in developing countries. It defines enteropathy as an acquired intestinal change seen in the absence of illness that may increase susceptibility to infection and malnutrition. While studies have found intestinal abnormalities are common, there is no consensus definition and the relationship between enteropathy, diarrhea, and malnutrition is unclear. The document calls for further research to better define enteropathy and understand its role and potential interventions.
The document summarizes genetic, environmental, neurobiological, and psychosocial factors related to schizophrenia. It discusses findings from family, twin, and adoption studies that suggest there is a genetic component. Prenatal and birth complications, winter birth, paternal age, and substance use are environmental risk factors. Neurobiologically, the document outlines evidence of decreased frontal lobe activity and changes in dopamine, glutamate, and GABA systems. Lower socioeconomic status, childhood trauma, and stressful life events are also discussed as psychosocial risk factors for developing schizophrenia.
Genetic factors contribute significantly to depression based on family, twin, and adoption studies:
1) Family studies show relatives of depression sufferers have twice to three times higher depression rates than the general population.
2) Twin studies find higher concordance rates for depression in identical twins compared to fraternal twins, supporting a genetic influence.
3) Adoption studies found biological relatives of adopted out depression sufferers were much more likely to have depression than adoptive relatives, eliminating effects of shared family environment.
This document summarizes research on predictors and long-term effects of obsessive-compulsive disorder (OCD) in youth. Several studies found that OCD symptoms can be categorized into domains and remain consistent over time, though environmental influences decrease with age. Predictors of quality of life outcomes included gender, treatment, personal evaluations of impairment, and environmental factors. Beliefs about responsibility for potential threats predicted symptom severity in youth with OCD and their mothers. Co-occurring disorders like impulse control disorders or tics were also more common and increased OCD impairment. Symptom severity, anxiety, and low well-being predicted greater parental reports of impairment in youth. The degree of distress during OCD therapy did not predict treatment outcomes as much as
Paige Terrien Church is a neonatologist and developmental pediatrician at the University of Toronto who presented on neural tube defects (NTDs). She reviewed the medical impact of NTDs in adolescence including neurosurgical issues like hydrocephalus and tethered cord syndrome, bladder and bowel complications, orthopedic issues, and medical risks. She also discussed psychosocial challenges with independence, sexuality, and family planning considerations. Her goal was to educate about lifelong complications from NTDs and minimize morbidity through prevention and optimal healthcare.
Week 5 Data Types and Gottesman and Shields 1961Jamie Davies
This document contains learning objectives and materials for lessons on schizophrenia and research methods in psychology. It includes an application task analyzing a case study of a person named Jack who has schizophrenia. It also provides information on primary and secondary data in research and examples of questions to answer about these topics. Finally, it outlines objectives and materials on the use of twin studies in examining the role of nature and nurture in schizophrenia, including objectives for understanding Gottesman and Shields' twin study on the disorder.
16. Stress And The Git Does It Cause Crohns Diseaseensteve
The document discusses the relationship between stress and Crohn's disease. It summarizes that while stress does not appear to cause Crohn's disease, stress may modulate the disease course by influencing the brain-gut axis. Stress can diminish protective intestinal factors and increase permeability through pathways like the HPA axis and sympathetic nervous system. Some studies have found an association between psychological distress levels and future Crohn's disease activity, but the evidence regarding stressful life events triggering relapse is inconsistent.
This document summarizes a research proposal that aims to test the hypothesis that childhood vaccinations cause autism. The study would examine mercury levels in the urine of children at different age groups and time intervals following the MMR vaccination, to determine if higher mercury is associated with autism. The proposal provides background on autism rates increasing, the discredited Wakefield study linking MMR and autism, and reviews previous studies on thimerosal and mercury that both support and contradict the hypothesized link to vaccinations. The proposed methodology would collect urine samples from 18 children divided into age groups around the time of first MMR vaccination, to measure mercury levels at different time points following vaccination.
This document outlines a presentation on genetics and genetic epidemiology. It begins with basics of genetics such as chromosomes, DNA structure, genes and gene expression. It then discusses study designs in genetic epidemiology including familial aggregation studies using families and twins. Methods of analysis covered include segregation analysis, linkage analysis to locate disease genes, and association analysis to identify specific genetic variants. The document provides examples of both simple and complex genetic diseases and mechanisms such as epigenetics. Key genetic concepts such as heritability, concordance rates, and linkage disequilibrium are also explained.
This document contains a case study of a 23-year-old female student experiencing progressive weakness and vision problems. Her symptoms include ptosis, double vision, difficulty chewing and using utensils, and worsening weakness throughout the day. Examination found ptosis that worsened with upward gaze and improved with eye closing. The most likely diagnosis is myasthenia gravis due to the presentation of progressive fatigability, ptosis, bulbar involvement, and reflex-sparing symptoms. Myasthenia gravis is caused by antibodies targeting nicotinic acetylcholine receptors.
Letter autismo e down jaacap s-06-00468[1]Italo Santana
This study examined the prevalence of pervasive developmental disorder (PDD) in 205 individuals with Down's syndrome in Curitiba, Brazil. The frequency of PDD was found to be 15.6%, with 5.58% having autism and 10.05% having non-autism PDD. This is higher than the 7% frequency found in a previous smaller study. The results suggest that Down's syndrome may be a risk factor for developing PDD. No significant gender differences were found between those with Down's syndrome and PDD. Higher frequencies of social disabilities were found in family members of those with both Down's syndrome and PDD.
i. OT males retrieved the banana more slowly than saline males, while OT females took it more quickly than saline females, suggesting OT heightened anxiety in males but reduced it in females.
ii. OT males balked more frequently than saline males, while OT females balked less often than saline females.
iii. The longest retrieval latencies were displayed at age 15 months, on day 1 of testing, and in response to more complex patterns.
More Than Growing Pains: An Analysis of Juvenile Arthritis Amanda Rostic, MPH
I gave this presentation in my graduate level chronic disease epidemiology class. I also wrote a corresponding research paper about juvenile arthritis.
Did you know it has been estimated that as many as 300,000 children have some form of arthritis (in the USA)?
The Naive and Sentimental DiagnosticianYanki Yazgan
Mothers and doctors have different approaches to diagnosing developmental and behavioral problems in children. Mothers take a more "naive" approach by sensing when something is wrong based on their close relationship with the child, while doctors take a more "sentimental" or reflective approach using diagnostic criteria and analyzing symptoms. These different styles are similar to the distinction Friedrich Schiller made between naive poets who write spontaneously and sentimental poets who question their work. Including impairment criteria can help narrow the prevalence of conditions like ADHD but may also risk underdiagnosis. An ideal diagnostic approach balances the naive sense of relief of stress with the sentimental search for deeper explanations, similar to how a novelist operates.
This survey was conducted by mathematics students to study Parkinson's disease. It contains 15 questions about Parkinson's disease symptoms, risk factors, treatments, and types. The questions cover topics like the age of onset, differences between men and women, common symptoms like tremors and slowed movement, the role of medications in managing symptoms, and whether lifestyle and environmental factors can impact risk. The purpose is to learn more about Parkinson's disease.
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare genetic disorder that causes the inability to feel pain or sweat. It is caused by a mutation in the NTRK1 gene which affects nerve development and signaling. People with CIPA are unable to detect injuries and often experience severe infections, bone and tissue damage, and early death due to this inability to feel pain. Case studies show common issues include deep bone infections, self-mutilation, and lack of awareness of injuries like burns. While the condition cannot be cured, treatment focuses on managing infections, wounds, and increasing awareness to try to prevent further harm and improve life expectancy.
Hydrotheraphy untuk anak Rett Syndrome (jurnal)Elya Afifah
This case report investigated the effects of hydrotherapy on an 11-year-old girl with Rett syndrome. The girl underwent hydrotherapy twice a week for 8 weeks using the Halliwick method. Her physical abilities were assessed before, during, and after the hydrotherapy sessions. The hydrotherapy reduced her stereotypical hand movements and improved her feeding skills, hand skills, walking balance, and interactions. The report concluded that hydrotherapy may decrease stereotypical movements and increase purposeful hand functions for individuals with Rett syndrome.
(Jurnal Rett Syndrome LN) Growth and nutrition in rett syndromeElya Afifah
This document summarizes a study on growth and nutrition in Rett syndrome. It discusses how feeding difficulties and growth failure commonly occur in Rett syndrome due to both nutritional and non-nutritional factors. The document reviews literature on feeding problems at different stages of swallowing that can lead to dysphagia. Data from a specialized Rett syndrome clinic shows that over 80% of patients experienced feeding issues. While growth failure is well documented, the specific mechanisms remain poorly understood and clinical management is not evidence-based.
Patricia was an orphan girl from the Tirurai ethnic group who was raised by Jose Lactaotao and his wife after his wife and children died of malaria. Patricia was then given to the narrator's wife and showed great intelligence and adaptability in learning new skills like cooking, sewing and caring for children. However, Patricia still felt drawn to her ethnic roots in the hills and would occasionally sneak off to visit. This caused conflict as her adoptive parents wanted her to pursue her education. Eventually, a Tirurai meat peddler visiting town sparked a romance with Patricia. One day he did not return for months, but when he did he had grown more masculine from hard work.
Kemampuan Berkomunikasi pada Rett Syndrome (Jurnal)Elya Afifah
This case report describes the communication abilities of a 4-year-old girl with Rett syndrome. Prior to regression around 18 months, the girl had normal speech and language development with a 3-word vocabulary. Regression occurred in stages, with loss of hand function and cognitive skills declining to a 6-7 month developmental level by age 2 years 7 months. After regression, the girl was mostly nonverbal but would vocalize and maintain eye contact during social interactions. The report aims to provide a detailed description of her current communication abilities, focusing on intentionality and functionality rather than just lists of words.
Conflicts, stress and communication within groupsEdz Gapuz
This document discusses concepts related to managing conflicts and stress within groups. It defines conflict management as processes that teach individuals how to prevent, manage and resolve conflicts non-violently. It notes that conflict is natural and how it is handled determines if it is productive or destructive. It also discusses stress, defining it as any situation that places psychological or physical demands on a person. Occupational stress is defined as harmful physical and emotional responses that occur when a job's requirements do not match an employee's capabilities.
32 Ways a Digital Marketing Consultant Can Help Grow Your BusinessBarry Feldman
How can a digital marketing consultant help your business? In this resource we'll count the ways. 24 additional marketing resources are bundled for free.
This document summarizes and reviews several studies that investigated the potential association between autism spectrum disorders (ASD) and socioeconomic status. The review found inconsistent results across studies, with some finding a higher prevalence of ASD among higher social classes and others finding no association. The review concludes that there is likely no consistent association between social class and ASD, though parental education level may be more closely associated with ASD than median family income alone. Ascertainment methods, small sample sizes, and variability in case definitions across studies make drawing definitive conclusions difficult.
The document discusses risk factors for febrile seizures in children and factors that increase the risk of recurrence or development of epilepsy. It notes that a family history of febrile seizures, age under 18 months, and height and duration of fever are definite risk factors for recurrence. Children with two or more risk factors have over a 30% chance of recurrence within two years. Neurodevelopmental abnormalities, complex febrile seizures, and family history of epilepsy are definite risk factors for later development of epilepsy.
Archives ofDisease in Childhood 1992; 67 302-306Narcoleps.docxrossskuddershamus
Archives ofDisease in Childhood 1992; 67: 302-306
Narcolepsy
M R Allsopp, Z Zaiwalla
Abstract
The symptom of excessive sleepiness in
children and adolescents does not necessarily
cause great concern to families and profes-
sionals involved in their care. Children may
deny the symptom and minimise the adverse
effects. These factors contribute to an under-
diagnosis of narcolepsy in this age group when
clinical diagnosis is difficult as associated
symptoms may not have appeared or are hard
to elicit. In this paper three children whose
difficult behaviour contributed to the presen-
tation of their sleep disorder are described.
Park Hospital for
Children, Oxford
M R Allsopp
Z Zaiwalla
Correspondence to:
D)r M R Allsopp,
Child and Family Guidance
Centre, Wvvern House,
'T'heatre Square, Swindon,
Wiltshire SNI IQN.
Accepted 22 November 1991
The narcolepsy syndrome comprises sleep dis-
turbance, cataplexy, sleep paralysis, and
hypnagogic hallucinations, although all four
symptoms occur only in a minority.' 2 The
sleep disturbance involves excessive daytime
drowsiness with intermittent, irresistible naps
and a disrupted pattern of nocturnal sleep.
Estimates of the prevalence of the condition
suggest that between two and nine per 10 000 of
the general population are affected.3 There is a
strong link with HLA-DR2.4 The condition is
rarely diagnosed in childhood or early puberty,
although single cases have been reported.5 6 In a
large series of patients only 4% of400 adults had
been diagnosed before the age of 15 years,7 yet
Navelet et al reported that the families of more
than half of adult patients recalled that
symptoms had begun by that age.8
The apparent under identification of narco-
lepsy in children and young adolescents is given
added significance by the increasing evidence
that patients with narcolepsy suffer significant
psychosocial adversity and the possibility that
early intervention may reduce this.9 10 Kales et
al detail the retrospectively self reported psy-
chosocial adverse consequences of excessive
sleepiness in childhood or adolsecence. " Many
patients had school problems and reported that
their teachers misinterpreted symptoms as
laziness, indifference, or malingering. The
authors suggest that these consequences,
together with a lack of emotional expressivity
cultivated by patients to prevent cataplexy,
contribute to the high rate (50%) of minor
psychopathology found in this and other studies
of adult populations.'2 13
In this paper we describe three consecutive
cases of narcolepsy in childhood presenting to
the Park Hospital for Children, Oxford, a
specialist centre for childhood epilepsy, sleep
disorders, and behavioural disturbance. They
illustrate some of the diagnostic issues and
management problems that may be encountered.
Case reports
CASE 1
A boy aged 8 years was referred with a history of
daytime sleepiness, irritability, and difficult
behaviour. He had become increasingly sensi-
tive, surly, and irritable after the .
Etiology of schizophrenia. taniya thomas. msc 1stTaniya Thomas
its is about the various theories explaining the cause(aetiology) of schizophrenia. this includes biological theories, social theories and cognitive theories
Leading Australian Rett Syndrome researcher, Professor Helen Leonard's presentation from the Respite Plus Beyond Respite Forum, 2014 held at Twin Waters Resort, Sunshine Coast Australia
Seizures and epilepsy occur in 30-38% of individuals with autism spectrum disorders (ASD). While the etiology is unclear, abnormalities in neurotransmitters like glutamate and GABA may contribute to the high comorbidity between ASD and seizures. More research is still needed to understand the relationship and determine causality between ASD and epilepsy. Clinicians should be aware of the risk of seizures when assessing and treating individuals with ASD.
Autism spectrum disorder is a neurodevelopmental condition characterized by impairments in social communication and restricted, repetitive behaviors. It is a highly heritable and heterogeneous condition. The document discusses the history of autism, epidemiology, etiology including genetic and environmental factors, clinical features, diagnosis, and treatment. Autism is typically diagnosed by age 2 and is more common in boys than girls. While the exact causes are unknown, both genetic and environmental factors are thought to play a role in its development.
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Dari Jurnal Kesehatan : emotional-and-behavioural-aspects-of-rett-syndrome
1. EMOTIONAL AND BEHAVIOURAL A P C S
SET
OF RETT SYNDROME
David Sansorn
V . H . R . Krislinatr
John Corberr
Alison Kerr
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1
Rett syndrome, first described by Rett
(1966), affects female children and is the
most common condition affecting girls
with profound mental impairment. The
diagnosis is now based on recognition of
the characteristic neurodevelopmental
phenotype (Hagberg el al. 1983). A fourstage clinical grouping by the course of
the condition has been described,
suggesting that the phenotype may change
with age, with each stage having special
characteristics which present difficulties
in diagnosis (Hagberg and WittEngerstrom 1986).
The prevalence was estimated initially
at 1:15,000 (Hagberg 1985), but a more
recent estimate of 1:1O,OOO reflects
improvements in case-finding (Kerr 1992).
The physical features have been well
described, but there has been less emphasis on the behavioural and emotional
characteristics of the condition.
The syndrome has only achieved
prominence in the English literature over
the past decade and a number of
behavioural and psychiatric features have
been described. During the regressive
stage there can be marked autistic
features, sometimes to such an extent that
a diagnosis of autism is made (Olsson and
Rett 1985). Difficulty in diagnosing Rett
syndrome in some children who have
autistic symptoms has prompted a
suggestion that there could be a common
pathophysiological abnormality for both
conditions (Burd et a/. 1989, Gillberg
1989). Kerr and Stephenson (1985) noted
episodes of screaming and panic, and
Coleman et al. (1988), using a parental
questionnaire, found that screaming
episodes occurred in 84 per cent of cases,
73 per cent of them during the period of
autistic withdrawal. Inappropriate fear in
unfamiliar situations occurred in 75 per
cent and self-injury in 49 per cent,
although the criteria for self-injury were
not described in detail.
The self-help given by parental
associations has been noteworthy (Allan
1988, Moeschler et 01. 1988). The present
study was undertaken to collect the
observations of the parents of daughters
with Rett syndrome. Special attention
was given to information suggestive of
common problems during activities of
daily living. The research arose from
requests for psychiatric advice from
parents who were concerned about mood
changes and behavioural problems shown
by their daughters, as these behaviours
did not appear to fit the behavioural
phenotype previously described in the
literature.
Method
A postal questionnaire was sent to parents
who were members of the National Rett
Syndrome Association and the Rett
2. TABLE I
Age in years at diagnosis
B
. - . - ,. - .
.
N Mean age (SO)
vl
v,
7
I
4
1.1
Range
r?
‘CI
c,
rn
At time of
survey
107
At diagnosis of
Rerr syndrome 106
At diagnosis of
epilepsy
62
r
s
10.6
(5.4)
2.2-28.0
7.7
(6.5)
1.5-26.5
2
u1
5.2
(3.9)
0
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2
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TABLE I1
Age-range
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Age-range (yrs)
55
(N=20)
N
%
6-10
(N=43)
N
%
11-15
(N=25)
N
%
2 16
Toial
( N = 1 9 ) (N=107)
N
%
N
%
2
4
2
4
-
LJ
Anxiety
Episodes of anxiety
Brief episodes
Sustained episodes
Precipitated by events
Mood
Low mood
Brief low mood
Sustained low mood
Cries for no reason
Mood changes, precipitated
Sey-injury
Earing
Good appetite
Appetite varies
Food precipitates
behavioural problems
Sleep
Sleeps well
Wakes u p early
Night-time laughing
crying
screaming
Epilepsy
Diagnosed epilepsy
Seizures past year
EEG examination
17
16
3
15
85
80
I5
75
33
31
8
30
77
72
19
70
18
I4
12
3
16
6
8
70
60
15
80
30
40
32
31
3
31
21
25
74
72
7
72
49
58
18
17
20
7
100
35
39
I2
7
35
16
15
16
80
75
80
14
70
68
63
21
58
81 75.7
76 71.0
18 16.8
69 64.5
58
37
75
67
10
67
42
52
72
68
I2
52
13
12
11
11
72
68
8
44
36
44
91
28
24
8
96
32
19
3
100
16
102 95.3
30 28.0
12
28
II
44
9
47
39 36.4
70
84
60
58
4
4
17
18
21
1
1
12
68
72
84
56
48
18
II
12
30
36
39
25
19
95
58
74
53
47
81
80
90
63
52
11
55 . 24
30 24
75 38
56
56
88
15
14
20
60
56
80
13
I1
68
58
89
63 58.9
55 51.4
90 84.1
6
15
Syndrome Association (uK). The questionnaire requested information about the
age and sex of the child and the age at
which Rett syndrome and epilepsy had
been diagnosed, and about the child’s
food habits, sleep pattern, mood changes
and anxiety attacks. Questions were also
asked about the onset, seizure frequency,
investigation and treatment of epilepsy.
91
17
3
13
2
I1
9
4
11
7
2
9
6
8
14
10
9
17
11
47
32
42
70.1
62-6
9.3
62.6
39-2
48.6
75.7
74.8
84.1
58.9
48.6
Additional information pertaining to the
nature of self-injurious behaviour,
methods used by parents to distract the
child from self-injury, and a list of
medications given to the child was also
collected.
One hundred and seven questionnaires
were returned and subsequently 30 of the
families were interviewed individually by
341
3. TABLE 111
Topography of self-injury
-
d
Biting fingers and hands
Chewing fingers
Hand-to-head banging
Hand-to-object banging
Hair-pulling
Scratching
(N= 107)
28
4
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5
3
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two of the authors (D.S. and J.C.). In
many cases the diagnosis of Rett
syndrome had been confirmed by
Professor Andreas Rett and/or Dr.
Alison Kerr. The reliability of the parents’
answers to the postal questionnaire and
the appropriateness of the questions were
confirmed in the subsample of 30 families
interviewed. All the items in the
questionnaire were analysed for the
presence or absence of the features in the
answers and comments made by the
parents.
Results
The mean age of the cohort at the time of
the study was 10.6 (range 2.2 to 28) years
(Table I). The diagnosis of Rett syndrome
was made at a mean age of 7 . 7 years, and
diagnosis had been known for a mean
duration of 2 . 9 years. The diagnosis of
epilepsy was made at a mean age of 5 . 2
years. The frequencies of variables in
successive age-groups are shown in
Table 11.
Observable episodes of low mood were
repeated for 70 per cent of the children;
67 per cent had brief episodes of mood
change, with only 9 per cent having shown
sustained mood change. There was no
clear evidence for a definite pattern of
biological features of a depressive illness
in any age-group.
Children under 15 years of age tended
to have episodes of anxiety which were
precipitated by external events, and the
general impression was of emotional
lability
and
episodes
resembling
catastrophic reactions seen in older people
with dementia. Episodes of anxiety
occurred in 75 per cent of the children:
these appeared t o be different from
s
;
342
episodes of low mood and were associated
with hyperventilation, screaming, selfinjury, a frightened expression and
general distress. Events leading to anxiety
were sudden noises, some types of music,
strange people or places, change of
routine and excessive activity in proximity
to the child. Manoeuvres which calmed
the anxiety and self-injury were slow
music, singing, holding, cuddling,
massage, water play and access to
favourite toys.
Of the 107 children, 63 (59 per cent)
were said t o have epilepsy, which was
diagnosed at a mean age of 5 - 2 (range one
to 19) years, and 52 of these had received
anticonvulsants. 32 per cent also had
brief ‘attacks’, often associated with
hyperventilation and alteration in
consciousness, which were not typically
epileptic, but which were reported by
parents as causing concern. 19 per cent of
the children in the age-range five to 10
years had this form of abrupt change in
behaviour.
As shown in Table 111, 52 (48-6 per
cent) of the children had shown selfinjurious behaviour. Most frequently
this consisted of biting the hands and
fingers, but in a number of cases it had
progressed to head-banging, hair-pulling
and scratching.
The following case vignette illustrates
many of the problems reported.
A. was 10 years old and an only child. The
pregnancy and her birth were normal and she
seemed 10 develop normally during the first nine
months. She was able to sit unsupported, was
described as an inquisitive child and had learned to
finger-feed by this time. Her development then
slowed down and she lost skills. Repetitive handwringing developed, from which it was very difficult
to distract her. At the age of 18 months she appeared
to lose touch with her surroundings, spending much
of the day staring into space and avoiding contact
with people. Cuddling by her parents caused her
distress, and she would become stiff and scream.
Such incidents also occurred when she was taken
outdoors. She also developed episodes of
hyperventilation and air-swallowing. making it very
difficult for her parents to feed her.
At the age of four years she developed epilepsy,
with generalised tonic-clonic seizures, which was
controlled with sodium valproate. By the age of five
years she began to take more notice of things around
her and to show more affectionate contact with
those she knew well. However, during this time her
limbs became stiff, she had difficulty in walking and
she needed a brace a s she was developing scoliosis.
She then began to have episodes, lasting for a few
4. minutes, in which she became distressed and cried
for no apparent reason. She also developed episodes
of extreme terror, usually when she was in an
unfamiliar situarion. This was often accompanied by
biting the back of her hand and banging her head on
the nearest object. This behaviour could only be
terminated by prolonged sessions of cuddling. At
present this behaviour has reduced in frequency and
inlensity .
Discussion
This study collected the observations of
parents ,about their children’s behaviour
and hence has certain methodological
disadvantages. However, it does reflect
the nature of the problems perceived by
the parents. In addition to answering the
questionnaire, many parents sent letters
with additional details. Some questionnaires were answered by both parents, but
most were answered by the mother, with
extensive notes, providing a wealth of
additional information. The problem of
conducting a study by postal questionnaire when the participants often are
knowledgeable about a particular
syndrome, and therefore may look for
known symptoms, has been discussed by
O’Brien (1991). In this study, however,
information was collected
about
symptoms not usually emphasised in the
literature and was confirmed by detailed,
structured interviews of a subsample of 30
families.
The diagnosis of Rett syndrome was
made at a later age-range than that
reported in a postal questionnaire in the
USA by the International Rett Syndrome
Association (Coleman et af. 1988), which
suggests that the syndrome is now being
recognised clinically in older children.
The majority of cases were clustered in
and around major cities, so a possible bias
may arise from the fact that recognition
of the condition is still confined to centres
with a special interest in the syndrome.
In our study 59 per cent of the children
had epilepsy, while Coleman and
colleagues (1988) reported an incidence of
72 per cent of children with a seizure
disorder. The stricter criteria for the
diagnosis of epilepsy and the clear
distinction from ‘attacks’ of hyperventilation and distress in the present
study may account for this discrepancy.
The mean age at onset of epilepsy in the
present study was five years, while
Coleman and colleagues reported a mean
age at onset of 3 years 7 months. I t was
noted that onset of epilepsy was
uncommon after the age of eight years.
Many of the differences between the
present study and that of Coleman and
colleagues may be a reflection of the older
ages of the children in our study.
Although both studies have reported that
the children had good appetites, only 1 1
per cent (N= 12) of the children in our
study had definite problems of abdominal
‘colic’, while 63 per cent of the children in
Coleman and colleagues’ study had
similar problems: it is likely that the
episodes of distress in the regressive phase
were attributed to this problem, without
confirmatory evidence. 74 per cent of the
children in Coleman and colleagues’ study
had sleep problems. Both studies found
that almost 80 per cent of the children
laughed at night. Anxiety states were less
common in the present study.
The frequency of self-injuries to the
hands was 38.3 per cent in the present
study, compared with 49 per cent reported
by Coleman and colleagues. In most cases
the injuries were mild, taking the form of
hand-biting, but where it extended to
other topographies such as head-banging,
the injury could be severe. Many of the
children suffered from brief episodes of
anxiety and low mood, which were
frequently precipitated by changes in their
environment and at times led to
prolonged episodes of distress and selfinjury. However, the conclusions drawn
in the present study are based on
observations by the parents, so further
behavioural research based on direct
observation, and using techniques such as
functional behaviour analysis, is indicated.
There was a tendency for behavioural
problems to improve with age. It may be
that the behavioural phenotype in Rett
syndrome does change with age, and
although emotional symptoms are
common, there is little evidence to suggest
that sustained depressive disorders are
frequent. The affective changes seen in
teenagers with Rett syndrome may be
analogous to the adolescent ‘turmoil’
that occurs in many normal adolescents
(Rutter 1986).
However, conclusions from studies of
depression in normal adolescents cannot
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be applied to behaviours perceived by
parents of children with Rett syndrome; it
may be that the affective symptoms seen
in this and other pervasive disintegrative
disorders are analogous to the
catastrophic reactions seen in older people
with dementia (Corbett 1987).
Many families had found methods of
coping with distressing behavioural and
emotional symptoms (Allan 1988).
Although ignoring the behaviour may be
effective in reducing secondary selfinjury, it was generally felt to be
ineffective for dealing with the episodes
of distress, hyperventilation and handbiting. Distraction and reinforcement
of alternative incompatible behaviours,
together with comforting, were found
most useful. Parents’ descriptions of
some of the anxiety episodes are given in
the Appendix. Strategies to prevent the
occurrence of such episodes included
hydrotherapy, massage and music
therapy, and in some instances the
avoidance of particular foods. No single
strategy was universally effective, although avoidance of excessive stimulation
appeared to be most effective. In all cases
it was considered important to search for
causes of physical pain, such as toothache
or earache, which the child might have
difficulty in indicating because of the
profound language disorder. There is a
need for primary health-care and
learning-disability services to be familiar
with the behavioural phenotype in Rett
syndrome.
Appendix
Behaviours suggestive of anxiety attacks
Synrprorns of anxiety and distress rcported in the
present study:
Her eyes look ansious.
Tense and shaking, slightly confused.
She shakes.
Tense, teeth grinding, left hand in mouth.
She may begin with a look of utter panic.
hyprrventilation increases dramatically, becomes
increasingly agitated, very occasionally tears.
Look of panic in the eyes.
Gets all breathless, eyes go wider and sometimes
panis.
Looking around frantically, wants close contact.
Becomes anxious, distressed. as if in pain, throws
herself around.
Estreniely unhappy, shaking, screaming, grabbing.
Worried look.
Becomes very stiff and frightened.
Loud giggling, turning to crying and screaming.
Screams and her whole body shakes.
Shakes. panic in the eyebrows and her eyes ask for
help.
Panicky expression, shakes.
Goes quiet, her arms are drawn up under the chin.
She becomes ‘panicky’ and clings to us crying.
Frantically looking around, wonders where she is,
hugs herself for reassurance and body contact.
Total panic o n her part.
Sheer panic, gulps down air and shakes, looks
absolutely petrified.
Sobbing, screaming hysterically, pulling hair (hers
and ours), has frightened expression on her face.
Looks from one to another, almost frantically.
She has a look of panic on her face.
Holds breath, looks startled.
Shakes and seems frightened.
She becomes very distressed, hot and red in the face,
eyes stare and seem red, she screams, bites, head
bangs and I sit and hold her tightly until she calms
down.
Accepted for publication 22nd September 1992.
Ackno wledgements
The authors thank the members of the National Rett
Syndrome Association and the Rett Syndrome
Association (UK) for their help and co-operation
during the study, and Mrs. Jane Lawrence for help
with typing.
Authors’ Appointments
David Sansom, M.R.C. Psych., Senior Registrar;
Psych., Senior
Registrar;
*John Corbett. F.R.C.P., F.R.C. Psych., D.C.H.,
Professor of Developmental Psychiatry, University
of Birmingham;
Queen Elizabeth Psychiatric Hospital, Mindelsohn
Way, Birmingham B1S 2 4 2 .
Alison Kerr, M.R.C.P., D.C.H., Senior Lecturer.
University of Glasgow, Quarriers Monitoring Unit,
Bridge of Weir, Scotland PA3 3SA.
V. H . R. Krishnan, M.R.C.
From Witt Engerstrom (1990)
Subjects
S.4 Anguish, pain.
S.5 Bouts of increased tension.
S.6 Screaming.
S. I 1 Episodes suggestive of panic and anguish.
S. 14 Spells of widened pupils and fearful expression.
S. 18 Spells of tension, anguish and screaming.
S.33. 66, 85 Spells of tension.
344
*Correspondence to third author.
SUMMARY
A survey of 107 families of children with Rett syndrome was conducted t o further define the
behavioural phenotype. There was a high prevalence of behavioural a n d emotional problems,
including episodes of anxiety (76 per cent), low mood (70 per cent) a n d self-injurious behaviour (49
per cent). Although there was n o significant difference across the age-ranges studied, there was a
tendency towards a reduction in these problems with increasing age, suggesting that the behavioural
phenotype in Rett syndrome varies with age. Epilepsy occurred in over half the children, but there
6. was no clear association with behavioural and emotional problems. A number of families had
established strategies for coping with their child’s anxiety and mood changes.
RESU hl E
Aspects affecti/s et cornporternentaus du syndrome de Rett
Une etude portant sur 107 familles d’enfants presentant un syndrome de Rett a i t e conduite pour
mieux difinir le phenotype comportemental. II fut note une prevalence elevee de problemes
comportementaux et affectifs, incluant des episodes d’anxiete (76 pour cent), une humeur deprimee
(70 pour cent) et un comportment auto-agressif (49 pour cent). Bien qu’il n’ait pas ete note de
differences significatives en fonction des l g e s etudies, il y avait une tendance a la diminution des
problemes avec I’dge, suggerant que le phenotype comportemental du syndrome de Rett varie avec
I’Qge. L’epilepsie etait presente dans plus de la moitie des cas, mais il n’y avait pas d’association
nette avec les problemes comportementaux et affectifs. Bon nombre de familles avaient mis en place
des strategies de prise en charge de I’ansiete et des modifications de I’humeur.
‘A
r
-?
,
0
m
7
m
o
Q‘
ZUSAMMENFASSUNC
Ernotionale itnd Verhaltensaspekte beim Reit Syndrom
107 Familien mit Kindern mit Rett Syndrom wurden untersucht, um den Verhaltenstyp naher
bestimmen zu konnen. Es gab eine Vielzahl von Verhaltens- und emotionalen Problemen, wie
Angstzustande (76 Prozent), Verstimmtheit (70 Prozent) und selbstzerstorerisches Verhalten (49
Prozent). Obwohl kein signifikanter Unterschied bei den untersuchten Altersgruppen festgestellt
wurde, gab es doch eine Verringerung dieser Probleme mit zunehmendem Alter, was vermuten IiiDt,
dal3 sich der Verhaltenstyp beim Rett Syndrom mil dem Alter andert. Die Halfte der Kinder hatte
eine Epilepsie, aber es fand sich kein eindeutiger Zusammenhang mit Verhaltens- und emotionalen
Problemen. Mehrere Familien hatten eine Strategie entwickelt, um mit den Angst- und Verstimmungs
zustanden fertig zu werden.
RESUMEN
Aspecios ernocionales y conduclales del sindrorne de Reti
Se realizo un estudio de 107 familias de nifios con sindrome de Rett con el objeto d e definir el
fenotipo conductal. Habia una gran prevalencia de problemas de conducta y emocionales,
incluyendo episodios de ansiedad (76 por ciento), estado de hnimo bajo (70 por ciento) y
comportamiento autolesivo (49 por ciento). Aunque n o habia diferencia significativa en 10s grupos
de edad estudiados, habia una tendencia hacia la reduccion de estos problemas al aumentar la edad,
lo que sugiere que el fenotipo del sindrome de Rett varia con la edad. La epilepsia ocurrio en mas
de la mitad d e 10s nifios, per0 no habia una asociacih Clara con 10s problemas de conducta y
emocionales. Una serie de familias habian establecido estrategias para adaptarse a la ansiedad y a
10s cambios d e estado de Bnimo.
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