Variations of Stereotypies in Individuals With Rett Syndrome: A Nationwide Cross-Sectional Study in Taiwan
Psychology; epilepsy; disorders; movement disorders; Rett syndrome; girls; autism; mecp2 mutations; MECP2; Behavioral Sciences; manifestations; CDKL5; chinese patients; ganglia; motor stereotypies; stereotypies; tone and motor problems; trajectory; characteristics; stereotypy; hair pulling; bruxism; retropulsion; lip protrusion
Individuals with Rett syndrome (RTT) can have variable manifestations of stereotypies. In this nation-wide cross-sectional study, we recruited all individuals with RTT in Taiwan diagnosed as RTT by neurologists based on genetic findings and diagnostic criteria. The data were collected using questionnaire. A total 43 cases of typical RTT and 15 cases of atypical RTT, aged from 2.1 to 40.1 years, were enrolled. They included 3 (5.2%) in stage II, 42 (72.4%) in stage III, and 13 (22.4%) in stage IV. All individuals presented with at least one stereotypy. Individuals with atypical RTT had more varied stereotypies (mean: 1466) compared to those with typical RTT (mean: 965) (P=0.003). Flapping (73.3%) and wringing (58.1%) were the most common hand stereotypies in atypical and typical RTT, respectively. Compared with typical RTT, hair pulling, bruxism, retropulsion, and protrusion of lips were more common in atypical RTT (P=0.003, P=0.006, P=0.003 and <0.001, respectively). The number of stereotypies did not differ among different stages, clinical severities, and hand functions. Although there were no age-related changes in stereotypies in atypical RTT, flapping (P=0.012), clapping (P=0.044), and mouthing with single hand (P=0.009) were significantly more prevalent in individuals aged <10 years with typical RTT, and they decreased after 10 years. In conclusion, our study showed that the stereotypical movements varied in typical and atypical RTT, implying the heterogeneous nature of the disease and the pathogenic mechanisms of RTT with atypical features. (C) 2017 International Society for Autism Research, Wiley Periodicals, Inc.
Wong L C; Hung P L; Jan T Y; Lee W T
Autism Research
2017
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1002/aur.1774" target="_blank" rel="noreferrer noopener">10.1002/aur.1774</a>
Behavior problems in children with tuberous sclerosis complex and parental stress
cancer; families; adolescents; Neurosciences & Neurology; seizure; attention; epilepsy; disorders; autism; Psychiatry; hyperactivity; autism spectrum disorder; diagnostic-criteria; population; tuberous sclerosis complex; Behavioral Sciences; mental; behavioral problems; frequency; infantile spasms; methylphenidate; mixed seizure disorder; parenting stress; retardation; tsc1; tuberous sclerosis; trajectory; characteristics
Behavioral problems are common in children with tuberous sclerosis complex (TSC) and can be challenging to manage at home. Standardized measures were used to assess behavior in 99 pediatric patients with TSC and to evaluate parenting stress in their parents. About 40% of the pediatric patients presented clinically significant behavioral problems, most frequently involving symptoms of autism spectrum disorder, inattention, and hyperactivity. Higher seizure frequency, mixed seizure disorder, and low intellectual functioning placed the patient at significant risk for behavior problems. Almost 50% of participating parents reported experiencing clinically significant parenting stress, which was associated with specific characteristics of the child, including the presence of current seizures, a history of psychiatric diagnosis, low intelligence, and behavioral problems. Clinicians should be aware that behavioral problems are prominent in children with TSC. Referrals for behavioral intervention and monitoring of parental stress should be included in the medical management of children with TSC. (C) 2008 Elsevier Inc. All rights reserved.
Kopp C M C; Muzykewicz D A; Staley B A; Thiele E A; Pulsifer M B
Epilepsy and Behavior
2008
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1016/j.yebeh.2008.05.010" target="_blank" rel="noreferrer noopener">10.1016/j.yebeh.2008.05.010</a>
Incontinence in Individuals with Rett Syndrome: A Comparative Study
children; Rehabilitation; adolescents; epidemiology; disorders; Rett syndrome; behavioral-phenotype; Comparative study; enuresis; females; Incontinence; intellectual disability; mental-retardation; urinary incontinence; bowel incontinence; fecal incontinence; trajectory; characteristics; adaptive functioning
Frequency and type of incontinence and its association with other variables were assessed in females with Rett Syndrome (RS) ( = 63), using an adapted Dutch version of the 'Parental Questionnaire: Enuresis/Urinary Incontinence' (Beetz et al. 1994). Also, incontinence in RS was compared to a control group consisting of females with non-specific (mixed) intellectual disability ( = 26). Urinary incontinence (UI) (i.e., daytime incontinence and nocturnal enuresis) and faecal incontinence (FI) were found to be common problems among females with RS that occur in a high frequency of days/nights. UI and FI were mostly primary in nature and occur independent of participants' age and level of adaptive functioning. Solid stool, lower urinary tract symptoms and urinary tract infections (UTI's) were also common problems in females with RS. No differences in incontinence between RS and the control group were found, except for solid stool that was more common in RS than in the control group. It is concluded that incontinence is not part of the behavioural phenotype of RS, but that there is an increased risk for solid stool in females with RS.
Giesbers S; Didden R; Radstaake M; Korzilius H; von Gontard A; Lang R; Smeets E; Curfs L M G
Journal of Developmental and Physical Disabilities
2012
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/s10882-012-9271-7" target="_blank" rel="noreferrer noopener">10.1007/s10882-012-9271-7</a>
Sleep problems and daytime problem behaviours in children with intellectual disability
children; Rehabilitation; adolescents; Neurology; disorders; Education & Educational Research; Genetics & Heredity; Neurosciences &; Psychiatry; handicapped-children; disturbance; challenging behavior; adults; community-based sample; daytime problem behaviour; difficulties; severe learning-disabilities; sleep problem; behavior; breathing difficulties; sleep disturbance; urinary incontinence; Rett syndrome; tuberous sclerosis; trajectory; characteristics; intellectual disability
BACKGROUND: Sleep problems are common among children with intellectual disability (ID). METHOD: The present study assessed the prevalence of severe sleep problems in a sample of children (n=286) with mild to profound ID who lived at home with their parents(s) in the Netherlands. It also explored relationships between severe sleep problems, and family and child variables. Demographic information, data on children's sleep behaviours and parent variables were collected using questionnaires. RESULTS: Severe settling problems, night waking and early waking were present in 4.2%, 10.8% and 4.2% of cases, respectively; 16.1% of children had at least one type of sleep problem. Children with a severe sleep problem had more severe levels of ID, used medication more often, had a greater frequency of epilepsy, were younger, had a greater frequency of cerebral palsy, and showed more daytime drowsiness and daytime napping than children without a severe sleep problem. Furthermore, children with a severe sleep problem showed more severe levels of daytime problem behaviours; for example, aggression, non-compliance and hyperactivity. CONCLUSION: The results of the present study are discussed with regard to the assessment and treatment of sleep problems in children with ID.
Didden R; Korzilius H; van Aperlo B; van Overloop C; de Vries M
Journal of Intellectual Disability Research
2002
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1046/j.1365-2788.2002.00404.x" target="_blank" rel="noreferrer noopener">10.1046/j.1365-2788.2002.00404.x</a>
Co-occurrence of Dystonic and Dyskinetic Tongue Movements with Oral Apraxia in Post-regression Dysphagia in Classical Rett Syndrome Years of Life 1 Through 5
Deglutition; disorders; girls; phenotype; dysfunction; mecp2 mutations; Classical Rett syndrome; Dysphagia; Early Pseudostationary stage; Fluoroscopy; genotype; Otorhinolaryngology; Swallowing; Videofluoroscopic study of swallowing; women; feeding difficulties; tone and motor; Rett syndrome; trajectory; characteristics; dysmotility; dystonia; dyskinesia
We do not know the natural history of dysphagia in classical Rett syndrome (RTT) by stage or age. This study investigated swallowing physiology in 23 females ages 1:7 to 5:8 (years, months) with classical Rett syndrome to determine common and distinguishing features of dysphagia in post-regression early Pseudostationary Stage III. In-depth analysis of videofluoroscopic swallowing studies (VFSS) found dysmotility of oral stage events across subjects implicating oral apraxia. Impaired motility was further compromised by recurrent dystonic and dyskinetic movements that co-occurred with oral apraxia during oral ingestion in 78 % (n = 18) of the subjects with RTT. Of this group, 44 % displayed rocking and/or rolling lingual pattern, 56 % had recurrent oral tongue retroflexions, and/or elevated posturing of the tongue tip, and, 72 % displayed multi-wave oropharyngeal transfer pattern. The proportion of subjects whose swallowing motility was disrupted by aberrant involuntary tongue movements did not differ significantly between bolus types (liquid, puree, and solid) trialed. Liquid ingestion was significantly more efficient in subjects using bottles with nipples than their counterparts who used spouted or straw cups. Dystonic and dyskinetic tongue movements disrupted liquid ingestion in subjects using cups with spouts or straws significantly more than those using bottles. Analysis of food ingestion revealed that significantly more subjects were able to orally form, transport, and transfer a puree bolus into the pharynx than they were a solid bolus. A significantly larger number of subjects aspirated and penetrated liquid than they did puree or solid. No significant relationship was found between subjects with airway contamination and those with dystonic and dyskinetic tongue movements. Subjects' rocking and rolling lingual patterns were consistent with those evidenced in adults with Parkinson's disease. Subjects' tongue retroflexions were classified as provisionally unique to RTT. VFSS pre-planning, fluoroscopic procedures, and therapeutic strategies specific to this specialty population were derived.
Abraham S S; Taragin B; Djukic A
Dysphagia
2015
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
<a href="http://doi.org/10.1007/s00455-014-9587-9" target="_blank" rel="noreferrer noopener">10.1007/s00455-014-9587-9</a>
The positive impact of children with an intellectual disability on the family.
Female; Male; Parents; Family Relations; Longitudinal Studies; Human; <25-70+ yr old parents; Disorders; family life; positive impacts of children with disabilities; Positivism
This paper reports the findings of a qualitative study on the positive impacts of children with an intellectual disability on their families. The study identified nine core themes: source of joy and happiness; increased sense of purpose and priorities; expanded personal and social networks and community involvement; increased spirituality; source of family unity and closeness; increased tolerance and understanding; personal growth and strength; positive impacts on others/community. In addition to the positive impacts, the study identified a high degree of negative interaction with professionals. Implications for policy, practice and research are discussed. (PsycINFO Database Record (c) 2007 APA, all rights reserved) (journal abstract)
1998
Stainton Tim; Besser H
Journal Of Intellectual & Developmental Disability
1998
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1080/13668259800033581" target="_blank" rel="noreferrer">10.1080/13668259800033581</a>
Posttraumatic stress and general distress among parents of children surviving a brain tumor.
Parents; Longitudinal Studies; Children; Psychological; Stress; Disorders; Post-Traumatic
In this preliminary study we examined both posttraumatic stress and general distress among parents of children diagnosed with a brain tumor. Participants included 28 parents of children diagnosed with a brain rumor who completed self-report measures of posttraumatic stress, general distress, coping, and illness uncertainty. Findings revealed that participants reported high levels of posttraumatic stress and general distress. Greater levels of emotion-focused coping and perceived uncertainty were associated with a higher frequency of both posttraumatic stress symptoms and general distress. However, perceived uncertainty was the strongest predictor of both indexes of distress. Emotion-focused coping predicted general distress, but not posttraumatic stress symptom severity. Overall, parents of children surviving a brain tumor appear to be at risk for both posttraumatic stress and general distress. Uncertainty in illness may constitute a primary risk factor for adjustment problems.
2001
Fuemeller B; Mullins L; Marx B
Children's Health Care
2001
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
Journal Article
<a href="http://doi.org/10.1207/s15326888chc3003_1" target="_blank" rel="noreferrer">10.1207/s15326888chc3003_1</a>
"you Don't Know Until You Get There": The Positive And Negative "lived" Experience Of Parenting An Adult Child With 22q11.2 Deletion Syndrome.
22q11.2 Deletion Syndrome; Ipa; Developmental-disabilities; Mothers; Stress; Psychology Clinical; Velo-cardio-facial Syndrome; Trauma; Interpretative Phenomenological Analysis; Velo-cardio-facial Syndrome; Families; Psychological Growth; Psychology; Symptoms; Prevalence; Disorders; Traumatic Distress
Ipa; Velo-cardio-facial Syndrome; 22q11.2 Deletion Syndrome; Traumatic Distress; Psychological Growth
OBJECTIVES:
22q11.2 deletion syndrome (22q11DS), a complex genetic syndrome associated with more than 180 features, presents complex challenges for parents including gaining a diagnosis. This phenomenological study sought the "lived" interpretations of parents supporting an adult child with 22q11DS, a poorly researched area.
METHOD:
Interpretative phenomenological analysis informed a detailed and open exploration of parenting a child through to adult life with 22q11DS. Using in-depth semistructured interviews, 8 parents (2 male, 6 female) of adult children with 22q11DS were individually interviewed; providing the data set for transcription and thematic analysis.
RESULTS:
Losing "I" Finding "self," overarched 6 subordinate themes that emerged from participants' articulated descriptions of psychological distress and psychological growth. Distress in parenting a child with 22q11DS was experienced through stigma, loss, grief, and guilt. Progressively, stigma undermined independence, friendships, and instinctual judgement. Ill-informed hierarchical structures experienced as layers of obstruction and lack of awareness of the syndrome triggered angry advocacy for their child. Diagnosis brought opposing relief and grief. In time, they came to value their unique "accomplishments," collected on their journey with 22q11DS, and in turn, consciously valued authentic "self" expressed through empathy, humility, gratitude, and pride.
CONCLUSION:
Parental distress through societal, educational, and health care invalidation persisted for decades for all participants. Conversely, distress facilitated psychological growth for redefining "self" and role as parents over time. Building on this phenomenological cameo, future research can educate against the plight of 22q11DS families. It can enlighten health care professionals in buffering against associated stigma, blame, and self-doubt, and in fostering psychological well-being. (PsycINFO Database Record
Goodwin J; McCormack L; Campbell LE
Health Psychology
2016
Article information provided for research and reference use only. PedPalASCNET does not hold any rights over the resource listed here. All rights are retained by the journal listed under publisher and/or the creator(s).
DOI: 10.1037/hea0000415