Learning Disability Nurses in Palliative Care - A Narrative on Diversifying the Workforce and the Caseload
learning disorder; narrative; nurse; Palliative Therapy; workforce; Adult; Adulthood; Attention; Autism; Child; cognitive defect; cohort analysis; conference abstract; distress syndrome; employment; epilepsy; Female; geriatric disorder; Hospice; Human; learning; Learning Disorders; malignant cardiac tumor; neurodisability; Palliative Care; skill; Terminal Care; treatment failure
There have been multiple recent reports regarding the inequalities in palliative and end of life care for people with learning disabilities; but little if any attention paid to the role of learning disability nurses working in palliative care. Children's hospices often have a well-established cohort of learning disability nurses in their employment. This has not currently translated into adult palliative care; increasingly though, children with complex neuro-disabilities and life-limiting conditions are living into adulthood with good care, and need specialist symptom management and end of life care through transition into adult services. Adults with learning disabilities and other complex health conditions are also now living into later life and are more likely to develop age related illnesses such as cancers, heart failure etc., rather than dying from an acute episode related to epilepsy, for example. Learning disability nurses bring a specialist skill set in supporting people with a known LD diagnosis, but also those with acquired cognitive impairment, those in mental distress, people with communication difficulties and autistic people. A Learning Disability Nurse may recognise undiagnosed learning or support needs in patients, and be able to provide strategies to ameliorate those needs. The author would like to present a narrative on her experiences of moving into palliative care and how Learning Disability Nurses can provide a new perspective and skill set within the specialist palliative care team.
Marsden S
BMJ Supportive and Palliative Care
2022
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/10.1136/spcare-2022-HUNC.102" target="_blank" rel="noreferrer noopener">10.1136/spcare-2022-HUNC.102</a>
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>
Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: An update
adolescent; Autism; parent; development; cognition; behavior; Developmental delay; problem behavior; priority journal; case study; interpersonal communication; preschool child; observational study; unclassified drug; childhood; human; article; child; female; male; adult; clinical article; young adult; automutilation; 7 dehydrocholesterol/ec [Endogenous Compound]; 8 dehydrocholesterol/ec [Endogenous Compound]; adaptive behavior; aggression; cerebrospinal fluid level; child rearing; cholesterol/ec [Endogenous Compound]; intelligence quotient; Smith Lemli Opitz syndrome; Smith-Lemli-Opitz syndrome; socialization; Stanford-Binet Intelligence Scale; Sterols; walking; behavior; tone and motor problems; trajectory; characteristics; aggression; development; delayed development
Background: Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precursor 7-dehydrocholesterol (7-DHC). Previous reports indicate that intellectual disability, behavioral disturbances, and autism symptoms are frequently part of the SLOS behavioral phenotype. In the current study, we characterize the developmental history and current behavior of 33 individuals with SLOS aged 4 to 23 years and report on biomarkers 7-DHC and 8-DHC in relation to cognition and behavior. Methods: This was an observational case series, wherein participants with SLOS underwent extensive behavioral evaluation of cognitive function, adaptive function, autism symptoms, and problem behaviors, in addition to parent report of developmental milestones. Serum and CSF were contemporaneously obtained from the majority of participants. Results: Developmental milestones such as walking, talking, and toileting were uniformly delayed. Overall levels of cognitive and adaptive functioning were low; no participant received adaptive behavior scores in the average range, and the mean level of cognitive functioning in the full sample was in the moderate range of impairment. Aggressive behavior was present in nearly half of participants. Although the majority of participants had elevated scores on the gold standard autism diagnostic instruments, only about half of participants received a clinical diagnosis of autism spectrum disorder. Finally, while CSF cholesterol was not found to correlate with cognitive or adaptive functioning, both serum and CSF 7-DHC and 8-DHC (and their ratios with cholesterol) were moderately and negatively correlated with functioning in this group. Conclusions: A history of developmental delay, followed by intellectual disability, is common in individuals with SLOS. Although autism spectrum disorder appears to be a frequent diagnosis in this population, it is apparent that the low level of functioning observed in SLOS may artificially inflate scores on standard autism assessments. Our findings further support that cholesterol precursors 7-DHC and 8-DHC are important biomarkers of the level of functioning in SLOS, especially regarding cognitive abilities, and thus may be to explore as mediators within the context of treatment trials.
Thurm A; Tierney E; Farmer C; Albert P; Joseph L; Swedo S; Bianconi S; Bukelis I; Wheeler C; Sarphare G; Lanham D; Wassif C A; Porter F D
Journal of Neurodevelopmental Disorders
2016
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<a href="http://doi.org/10.1186/s11689-016-9145-x" target="_blank" rel="noreferrer noopener">10.1186/s11689-016-9145-x</a>
Comparing PECS and VOCA to promote communication opportunities and to reduce stereotyped behaviors by three girls with Rett syndrome
Psychology; social; Rehabilitation; Quality of life; Education & Educational Research; Rett syndrome; autism; Psychiatry; spectrum disorders; developmental-disabilities; quality-of-life; disabilities; 2 boys; Augmentative and alternative communication; contact; Developmental; environmental stimuli; Indices of happiness; keyboard emulator; microswitch-based programs; motor disabilities; profound multiple disabilities; Stereotypies; tone and motor problems; physical intervention; Picture exchange communication systems; Vocal output communication aid
We compared PECS and VOCA intervention strategies to promote communication opportunities for three girls with Rett syndrome and severe to profound developmental disabilities. The first aim of the study was to assess the effectiveness of both aforementioned strategies by enhancing request and choices of preferred items by the participants involved to a caregiver. The second goal of the study was to assess the effects of the intervention program by reducing stereotyped behaviors (i.e. body rocking and hand movements). Finally, the third purpose was to carry out the indices of happiness and monitor quality of life concerning the participants exposed to the intervention program. The study was carried out according to an alternating treatments design with a final preference check phase for each participant. Results showed an increasing of independent requested and chosen items as well as of indices of happiness during intervention phases for all participants. Moreover, two of them chose VOCA strategy during preference checks phase, while the third one equally chose both strategies. Furthermore, a decreasing of stereotypies was observed during intervention phases for the three participants. Clinical, educational and psychological implications of the findings are discussed. (C) 2014 Elsevier Ltd. All rights reserved.
Stasolla F; De Pace C; Damiani R; Di Leone A; Albano V; Perilli V
Research in Autism Spectrum Disorders
2014
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.rasd.2014.06.009" target="_blank" rel="noreferrer noopener">10.1016/j.rasd.2014.06.009</a>
Self-injurious behavior and tuberous sclerosis complex: Frequency and possible associations in a population of 257 patients
Epilepsy; Self-injurious behavior; Neurosciences & Neurology; epilepsy; Tuberous sclerosis complex; autism; Psychiatry; gene; aggression; identification; adults; Behavioral problems; Behavioral Sciences; disabilities; Frontal; frontal-lobe seizures; lobe; Tuber location; behavioral problems; tuberous sclerosis; trajectory; characteristics
Self-injurious behavior (SIB) has been observed in people with tuberous sclerosis complex (TSC), although the frequency of SIB in TSC is largely unknown. SIB is associated with intellectual and developmental disabilities, but there is no single cause of SIB. We retrospectively examined the frequency of SIB in a population of 257 patients with TSC and determined possible associations with SIB. We found a 10% frequency of SIB in our TSC population. When compared with patients without psychiatric symptoms, we identified a significantly higher rate of electroencephalographic interictal spikes in the left frontal lobe and a significantly lower number of tubers in the left occipital, parietal, and posterior temporal lobes. We also found that frequency of TSC2 Mutation, history of infantile spasms, history of seizures, mental retardation, and autism are significantly associated with SIB. (C) 2008 Elsevier Inc. All rights reserved.
Staley B A; Montenegro M A; Major P; Muzykewicz D A; Halpern E F; Kopp C M C; Newberry P; Thiele E A
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.2008.07.010" target="_blank" rel="noreferrer noopener">10.1016/j.yebeh.2008.07.010</a>
Autism traits in children and adolescents with Cornelia de Lange syndrome
Communication; adolescent; Autism; emotion; age; verbal communication; communication disorder; priority journal; interpersonal communication; skill; intellectual impairment; human; article; child; female; male; adult; diagnosis; clinical article; daily life activity; disease severity; autism; Cornelia de Lange syndrome; phenotype; compulsion; language; stereotypy; adaptive behavior; socialization; Aberrant Behavior Checklist; behavior disorder; Behavioral phenotype; checklist; Childhood Autism Rating Scale; de Lange syndrome; hyperactivity; lethargy; limb; maladjustment; psychological rating scale; rating scale; Repetitive behaviors; rigidity; social cognition; Social cognition; Vineland Adaptive Behaviors Scales; behavioral problems; De Lange syndrome; trajectory; characteristics; irritability
Cornelia de Lange syndrome (CdLS) is a cohesinopathy causing delayed growth and limb deficits. Individuals with CdLS have mild to profound intellectual disability and autistic features. This study characterizes the behavioral phenotype of children with CdLS, focusing on autistic features, maladaptive behaviors, and impact of age. Children with CdLS (5-18 years) were administered normed instruments to characterize autism features (Childhood Autism Rating Scale, CARS), maladaptive behaviors (Aberrant Behavior Checklist), and adaptive skills (Vineland Adaptive Behaviors Scales). CdLS features and severity were rated with Diagnostic Criteria for CdLS. Forty-one children with CdLS (23 females, 18 males) were classified as having "no autism" (n=7; 17.1%), "mild autism" (n=17; 41.4%), and "severe autism" (n=17; 41.4%), using CARS scores. Characteristic items were abnormal emotional response, stereotypies, odd object use, rigidity, lack of verbal communication, and low intellectual functioning. Verbal communication deficits and repetitive behaviors were higher compared to sensory, social cognition, and behavior abnormalities (P<0.0001). Maladaptive behaviors associated with autism traits were stereotypies (P=0.003), hyperactivity (P=0.01), and lethargy (P=0.03). Activities of daily living were significantly affected; socialization adaptive skills were a relative strength. However, with advancing age, both socialization (P<0.0001) and communication (P=0.001) domains declined significantly. CdLS is characterized by autistic features, notably excessive repetitive behaviors and expressive language deficits. While other adaptive skills are impacted, socialization adaptive skills are less affected. Advancing age can worsen communication and socialization deficits relative to neurotypical peers. © 2014 Wiley Periodicals, Inc.
Srivastava S; Landy-Schmitt C; Clark B; Kline A D; Specht M; Grados M A
American Journal of Medical Genetics Part A
2014
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<a href="http://doi.org/10.1002/ajmg.a.36573" target="_blank" rel="noreferrer noopener">10.1002/ajmg.a.36573</a>
Quantifying behaviors of children with Sanfilippo syndrome: The Sanfilippo Behavior Rating Scale
Medicine; amygdala volume; autism; Behavior phenotype; Behavior rating scale; Endocrinology & Metabolism; Genetics & Heredity; kluver; management; mucopolysaccharidosis type iiia; MPSIII; Research & Experimental; Sanfilippo Syndrome; behavioral problems; trajectory; characteristics
The Sanfilippo Behavior Rating Scale (SBRS), a 68 item questionnaire, has been developed to assess the behavioral phenotype of children with Sanfilippo syndrome and its progression overtime. Fifteen scales rate orality, movement/activity, attention/self-control, emotional function including anger and fear, and social interaction. Items within scales intercorrelate; measures of internal consistency are adequate. Twelve scales are grouped into 4 abnormality clusters: Movement, Lack of fear, Social/emotional and Executive Dysfunction. A Loess age-trajectory analysis showed that Lack of Fear, Social/Emotional and Executive Dysfunction increased steadily with age; Orality and Mood/Anger/Aggression leveled off. Movement peaked around 6 years, then declined as children's excessive/purposeless actions stopped. Compared with standard scales, SBRS Movement was appropriately associated with the Vineland Motor scale; SBRS Lack of Fear had significant associations with the Autism Diagnostic Observation Schedule (ADOS), indicating a symptom overlap between Sanfilippo syndrome and autism. This suggests that reduced fearfulness may be the most salient/sensitive SBRS marker of disease progression. Volumetric MRI showed that increased Lack of Fear was significantly associated with reduced amygdala volume, consistent with our hypothesis that the behavior seen in Sanfilippo syndrome is a variant of Kluver-Bucy syndrome. Hippocampal volume loss had twice the effect on Social-Emotional Dysfunction as amygdala loss, consistent with a hippocampal role in attachment and social emotions. In conclusion, the SBRS assesses the Sanfilippo behavioral phenotype; it can measure behavior change that accompanies disease progression and/or results from treatment (C) 2015 Elsevier Inc. All rights reserved.
Shapiro E G; Nestrasil I; Ahmed A; Wey A; Rudser K R; Delaney K A; Rumsey R K; Haslett P A J; Whitley C B; Potegal M
Molecular Genetics and Metabolism
2015
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<a href="http://doi.org/10.1016/j.ymgme.2015.02.008" target="_blank" rel="noreferrer noopener">10.1016/j.ymgme.2015.02.008</a>
Pilot Validation of the Tuberous Sclerosis-Associated Neuropsychiatric Disorders (TAND) Checklist
psychosocial; children; Pediatrics; cognition; behavior; Neurosciences & Neurology; mental health; autism; gene; recommendations; academic; attention deficits; complex consensus conference; diagnostic-criteria; identification; neuropsychology; population; sample; TAND; tuberous sclerosis complex; behavioral problems; tuberous sclerosis; tool development; scale development
BACKGROUND: Tuberous sclerosis complex is a multisystem disorder that includes a range of tuberous sclerosis associated neuropsychiatric disorders (TAND). The lifetime prevalence rates of TAND are very high; yet surveys suggest that the majority of individuals with tuberous sclerosis never receive appropriate assessment or treatment for TAND. To aid systematic enquiry, a TAND Checklist was developed. Here, we performed pilot validation of the TAND Checklist. METHOD: Mixed methods were used across two stages. In stage 1, we gathered feedback on the Checklist from tuberous sclerosis "expert professionals" and "expert parents and caregivers." The aim was to examine face and content validity. Stage 2 involved the administration of the refined TAND Checklist to 20 parents of individuals with tuberous sclerosis concurrently with four widely used validated rating scales, to examine external validity and obtain qualitative feedback on face-to-face administration of the TAND Checklist. RESULTS: Twenty professionals and 62 parents and caregivers from 28 countries participated in the pilot. The TAND Checklist demonstrated good face and content validity with high overall mean and median scores. Qualitative analysis highlighted concerns about the likely use of the TAND Checklist, suggesting that family members and individuals with tuberous sclerosis should drive usage. Stage 2 results showed moderate-to-very good external validity across TAND domain and key subdomains. Internal consistency of domains and subdomains was acceptable to very good. Ninety-three percent of all participants (93%) reported four or more lifetime TAND behavioral difficulties. CONCLUSION: The pilot validation suggested that the TAND Checklist could provide a useful screening tool in clinical settings.
Leclezio L; Jansen A; Whittemore V H; de Vries P J
Pediatric Neurology
2015
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<a href="http://doi.org/10.1016/j.pediatrneurol.2014.10.006" target="_blank" rel="noreferrer noopener">10.1016/j.pediatrneurol.2014.10.006</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>
Hand stereotypies distinguish Rett syndrome from autism disorder
children; Neurosciences & Neurology; childhood; Rett syndrome; autism; mecp2; movements; hand stereotypies; motor stereotypies; stereotypies; developmental disorders; tone and motor problems; trajectory; characteristics; mouthing
Background: Rett syndrome (RTT) and autism disorder (AD) are 2 neurodevelopmental disorders of early life that share phenotypic features, one being hand stereotypies. Distinguishing RTT from AD often represents a challenge, and given their distinct long-term prognoses, this issue may have far-reaching implications. With the advances in genetic testing, the contribution of clinical manifestations in distinguishing RTT from AD has been overlooked. Methods: A comparison of hand stereotypies in 20 children with RTT and 20 with AD was performed using detailed analyses of videotaped standardized observations. Results: Striking differences are observed between RTT and AD children. In RTT, hand stereotypies are predominantly complex, continuous, localized to the body midline, and involving mouthing. Conversely, in AD children, hand stereotypies are simple, bilateral, intermittent, and often involving objects. Conclusions: These results provide important clinical signs useful to the differential diagnosis of RTT versus AD, especially when genetic testing for RTT is not an option. (c) 2012 Movement Disorder Society
Goldman S; Temudo T
Movement Disorders
2012
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<a href="http://doi.org/10.1002/mds.25057" target="_blank" rel="noreferrer noopener">10.1002/mds.25057</a>
Rett's syndrome: Characterization of respiratory patterns and sleep
etiology; ataxia; major clinical study; central nervous system; priority journal; seizure; human; child; diagnosis; Rett syndrome; autism; dementia; heredity; hyperpnea; respiratory system; sleep; breathing difficulties; sleep disturbance; trajectory; characteristics; abnormal respiratory problems; abnormal sleep patterns
Rett's syndrome is a progressive disorder that occurs in females and is characterized by autistic behavior, dementia, ataxia, loss of purposeful use of the hands, and seizures. Patients with Rett's syndrome have been observed to have stereotyped hand movements (hand-washing) and to exhibit intermittent hyperventilation. To characterize more precisely the sleep and respiratory patterns associated with this disorder, polygraphic studies were made during sleep and wakefulness in 11 patients with this syndrome. These studies showed abnormal respiratory patterns during wakefulness, and abnormal sleep and electroencephalographic characteristics. The patients had decreased percentages of rapid-eye-movement sleep, and during wakefulness, a pattern of disorganized breathing was observed in all 11 patients and consisted of hypoxia followed by a period of increased respiratory rate and effort. The occurrence of disorganized breathing and compensatory hyperpnea during wakefulness with regular, continuous breathing during sleep is characteristic of Rett's syndrome and suggests an altered or impaired voluntary/behavioral respiratory control system.
Glaze D G; Frost Jr J D; Zoghbi H Y; Percy A K
Annals of Neurology
1987
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<a href="http://doi.org/10.1002/ana.410210410" target="_blank" rel="noreferrer noopener">10.1002/ana.410210410</a>
Defining Hand Stereotypies in Rett Syndrome: A Movement Disorders Perspective
Pediatrics; definitions; Neurosciences & Neurology; Rett syndrome; girls; autism; actigraphy; hand stereotypies; operational; regression; video analysis; tone and motor problems; tool development; scale development; hand stereotypies
INTRODUCTION: Hand stereotypies (HS) are a primary diagnostic criterion for Rett syndrome (WIT) but are difficult to characterize and quantify systematically. METHODS: We collected video on 27 girls (2-12 years of age) with classic RTT who participated in a mecasermin trial. The present study focused exclusively on video analyses, by reviewing two five-minute windows per subject to identify the two most common HS. Three raters with expertise in movement disorders independently rated the five-minute windows using standardized terminology to determine the level of agreement. We iteratively refined the protocol in three stages to improve descriptive accuracy, categorizing HS as "central" or "peripheral," "simple" or "complex," scoring each hand separately. Inter-rater agreement was analyzed using Kappa statistics. RESULTS: In the initial protocol evaluating HS by video, inter-rater agreement was 20.7%. In the final protocol, inter-rater agreement for the two most frequent HS was higher than the initial protocol at 50%. CONCLUSION: Phenotypic variability makes standardized evaluation of HS in RTT a challenge; we achieved only 50% level of agreement and only for the most frequent HS. Therefore, objective measures are needed to evaluate HS.
Dy M E; Waugh J L; Sharma N; O'Leary H; Kapur K; D'Gama A M; Sahin M; Urion D K; Kaufmann W E
Pediatric Neurology
2017
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<a href="http://doi.org/10.1016/j.pediatrneurol.2017.05.025" target="_blank" rel="noreferrer noopener">10.1016/j.pediatrneurol.2017.05.025</a>
The behavioural phenotype of Cornelia de Lange Syndrome: a study of 56 individuals
children; Syndrome; Rehabilitation; communication; Neurology; Education & Educational Research; autism; Genetics & Heredity; brachmann-delange syndrome; Neurosciences &; Psychiatry; intellectual disability; mental-retardation; intelligence; behavioural phenotypes; cognitive level; Cornelia de Lange; language-skills; nipbl; normal; self-injury; self-mutilative behavior; behavioral problems; De Lange syndrome; trajectory; characteristics; CdLS; hyperactivity; attention disorder; anxiety; compulsive disorders; self-injurious behavior; autistic-like features
Background Few studies have investigated functional and behavioural variables of Cornelia de Lange Syndrome (CdLS) in a large sample of individuals. The aim of this study is to provide greater insight into the clinical, behavioural and cognitive characteristics that are associated with CdLS. Methods In total, 56 individuals with CdLS participated in the study. During hospitalization, their mothers received a number of questionnaires to complete. The behavioural phenotype was investigated using the following scales: Developmental Behaviour Scale Primary Carer Version; Autism Behaviour Checklist; Childhood Autism Rating Scale. Results Our participants demonstrated some behavioural characteristics that are frequently associated with CdLS (hyperactivity, attention disorder, anxiety, compulsive disorders, self-injurious behaviour and autistic-like features). Our findings demonstrate the variability of behavioural characteristics in CdLS in addition to highlighting the contribution of some variables to both the CdLS behavioural profile and the developmental trajectory of the behavioural pattern. Conclusions The behavioural characteristics identified in our sample were correlated with some clinical and functional aspects (chronological age, cognitive level and clinical phenotype). The variability of the behavioural profile in CdLS reflected the wide variability in cognitive and adaptive functioning across individuals and led us to conclude that there may be multiple behavioural phenotypes associated with the syndrome. Further comparative studies between CdLS and individuals with intellectual disability or other genetic syndromes may help to provide further understanding of the behavioural phenotype of CdLS.
Basile E; Villa L; Selicorni A; Molteni M
Journal of Intellectual Disability Research
2007
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<a href="http://doi.org/10.1111/j.1365-2788.2007.00977.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2788.2007.00977.x</a>
The opiate hypothesis in autism and self-injury
Pain Measurement; Analgesics; Pain; Pain Threshold; Naloxone; Naltrexone; Autistic disorder; Self-Injurious behavior; Opioid; Autism; Self Mutiliation
The opiate hypothesis maintains that patients engage in self-injurious behavior (SIB) either because they are partially analgesic (pathologically altered pain threshold) or because SIB supplies a "fix" for an addicted endogenous opiate system. The finding that opiate antogonists attenuate SIB is the strongest evidence for the opiate hypothesis. Most of the patients who had been administered opiate receptor antagonists for treatment of self-injurious behavior also had autistic disorder. Initial studies with naloxone, an injectable opiate blocker, reported positive effects in 8 (with robust effects in 6) of the 10 patients treated. Positive results were reported in studies with orally administered naltrexone in 38 of 45 autistic patients, including 24 of those 28 with SIB. Generally, the effective dose range for naltrexone is 0.5-1.5 mg/kg, but patients with high-frequency SIB typically responded best to the higher doses. Although the findings suggest a role of opiates in SIB, the database is very small and the studies vary widely in dimensions of dose, duration and method of observation, experimental controls, duration of treatment, and the age, gender, and diagnosis of patients treated. At this time, opiate blockers appear to be the only treatment option for some SIB patients who fail to respond to other treatments. It is unclear whether these treatments would help autistic patients who do not exhibit SIB or whether they would help nonautistic patients who demonstrate SIB, including individuals with Lesch-Nyhan disease, phenylketonuria, border-line personality, or major depression.
1990
Sandman CA
Journal Of Child And Adolescent Psychopharmacology
1990
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Journal Article
<a href="http://doi.org/10.1089/cap.1990.1.237" target="_blank" rel="noreferrer">10.1089/cap.1990.1.237</a>
Depression and anxiety symptoms in children and adolescents with autism spectrum disorders without intellectual disability
Prevalence; Comorbidity; Depression; Anxiety; Children; Adolescents; Autism; DEVELOPMENTAL; PSYCHIATRY; Psychology; ASPERGER-SYNDROME; At Risk Persons; Depression/psychology; DIAGNOSTIC INTERVIEW; Education; FRIENDSHIP; Intelligence Quotient; parent; People; PERVASIVE DEVELOPMENTAL DISORDERS; PSYCHIATRIC-DISORDERS; Rehabilitation; Special; Symptoms (Individual Disorders); VERSION
Recent studies have shown that rates of depression and anxiety symptoms are elevated among individuals with autism spectrum disorders (ASDs) of various ages and IQs and that depression/anxiety symptoms are associated with higher IQ and fewer ASD symptoms. In this study which examined correlates of depression and anxiety symptoms in the full school-age range of children and adolescents (age 6-18) with ASDs and IQs greater than or equal to 70 (n = 95), we also observed elevated rates of depression/anxiety symptoms, but we did not find higher IQ or fewer ASD symptoms among individuals with ASDs and depression or anxiety symptoms. These findings indicate an increased risk for depression/anxiety symptoms in children and adolescents with ASDs without intellectual disability, regardless of age, IQ, or ASD symptoms. (Contains 2 tables and 1 figure.)
Strang JF; Kenworthy L; Daniolos P; Case L; Wills MC; Martin A; Wallace GL
Research In Autism Spectrum Disorders
2012
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Journal Article
<a href="http://doi.org/10.1016/j.rasd.2011.06.015" target="_blank" rel="noreferrer">10.1016/j.rasd.2011.06.015</a>