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>
Behavioral aspects of Lesch-Nyhan disease and its variants
Adolescent; Adult; Aggression; Anxiety; Child; Depression; Female; Humans; Lesch-Nyhan Syndrome/px [Psychology]; Male; Self-Injurious Behavior; self-injury; Severity of Illness Index; alertness; behavioral problems; Lesch-Nyhan syndrome; trajectory; characteristics; distractibility
Self-injury is a defining feature of lesch-nyhan disease (LND) but does not occur in the less severely affected Lesch-Nyhan variants (LNV). The aim of this study was to quantify behavioral and emotional abnormalities in LND and LNV. Thirty-nine informants rated 22 patients with LND (21 males, 1 female), 11 males with LNV, and 11 healthy controls (HC; 10 males, 1 female) using two well-validated rating scales. The age of patients with LND ranged from 12 years 7 months to 38 years 3 months (mean 22 y 11 mo; sd 7 y 8 mo), whereas the age range of those with LNV was 12 years 9 months to 65 years (mean 30 y 7 mo; sd 15 y 2 mo), and the healthy controls were aged 12 years 4 months to 31 years 3 months (mean 17 y 10 mo; sd 5 y 7 mo). Behavioral ratings were based on the Child Behavior Checklist and the American Association On Mental Retardation's Adaptive Behavior Scale--Residential And Community, 2nd edition. Statistical analyses revealed that patients with LND showed severe self-injury together with problematic aggression, anxious-depressed symptoms, distractibility, motor stereotypes, and disturbing interpersonal behaviors. Patients with LNV were rated as being intermediate between the HC and LND groups on all behavior scales. Although the LNV group did not differ from hcs on most scales, their reported attention problems were as severe as those found in LND. We conclude that self-injurious and aggressive behaviors are nearly universal and that other behavioral abnormalities are common in LND. Although patients with LNV typically do not self-injure or display severe aggression, attention problems are common and a few patients demonstrate other behavioral anomalies.
Schretlen D J; Ward J; Meyer S M; Yun J; Puig J G; Nyhan W L; Jinnah H A; Harris J C
Developmental Medicine and Child Neurology
2005
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/10.1017/S0012162205001374" target="_blank" rel="noreferrer noopener">10.1017/S0012162205001374</a>
Serotonergic approaches to the modification of behavior in the Lesch-Nyhan syndrome
behavioral problems; Lesch-Nyhan syndrome; pharmacologic intervention; 5-hydroxy-tryptophan; self-injurious behavior
In a series of patients with the Lesch-Nyhan syndrome a pharmacologic attempt was made to alter the balance of biogenic amines in the central nervous system by increasing the level of serotin. Patients were treated with 5-hydroxytryptophan in combination with a peripheral decarboxylase inhibitor carbidopa and with imipramine. Most patients had a striking alteration in self-mutilative behavior. However, within 1–3 months each became tolerant and this pharmacologic effect could not be produced again even a year later. These observations suggest that the characteristic behavior of the patient with the Lesch-Nyhan syndrome is related to neurotransmitter balance, and that there may be ways to modify it.
Nyhan W L; Johnson H G; Kaufman I A; Jones K L
Applied Research in Mental Retardation
1980
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<a href="http://doi.org/10.1016/0270-3092(80)90014-4" target="_blank" rel="noreferrer noopener">10.1016/0270-3092(80)90014-4</a>
The association between environmental events and self-injurious behaviour in Cornelia de Lange syndrome
Adolescent Child; Child; Preschool; De Lange Syndrome/ep [Epidemiology]; Environment; Female; Humans; Male; Self-Injurious Behavior/di [Diagnosis]; Self-Injurious Behavior/ep [Epidemiology]; Self-Injurious Behavior/px [Psychology]; Severity of Illness Index; behavioral problems; De Lange syndrome; trajectory; characteristics; self-injurious behavior
BACKGROUND: There has been limited empirical research into the environmental causes of self-injury in Cornelia de Lange syndrome. The present study examined the variability of self-injurious behaviour in Cornelia de Lange syndrome across environmental setting events. Additionally, the association between setting events and more specific environmental events was examined. METHOD: A descriptive analysis of observational data on eight children with Cornelia de Lange syndrome aged between 4 and 14 years was carried out. The association between self-injurious behaviour and four environmental setting events and between specific environmental events and setting events was examined using established statistical methods for observational data. RESULTS: Seven out of eight of the participants showed at least one form of self-injurious behaviour that was associated with a particular setting event. The study also demonstrated that the relationship between setting events and environmental events is extremely variable across individuals. CONCLUSIONS: Self-injurious behaviour in some individuals with Cornelia de Lange syndrome is associated with environmental events although the precise nature of the association warrants clarification. Using broad setting events as a methodological tool in isolation provides some insight into the role of specific environmental factors in maintaining self-injurious behaviour but the integrity of setting events must be established.
Moss J; Oliver C; Hall S; Arron K; Sloneem J; Petty J
Journal of Intellectual Disability Research
2005
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<a href="http://doi.org/10.1111/j.1365-2788.2005.00649.x" target="_blank" rel="noreferrer noopener">10.1111/j.1365-2788.2005.00649.x</a>
Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome
Male; Child; Humans; Adult; Adolescent; Female; Child Preschool; Infant; Compulsive Behavior; De Lange Syndrome/px [Psychology]; Restraint Physical/px [Psychology]; Self-Injurious Behavior/px [Psychology]; behavioral problems; De Lange syndrome; trajectory; characteristics; self-injurious behavior; self-restraint
Researchers have argued that individuals who show self-restraint are more likely to show self-injurious behavior (SIB) that is compulsive. Self-injurious behavior, self-restraint, and compulsive behaviors have been described as features of Cornelia de Lange syndrome. We examined whether individuals with this syndrome displaying SIB and self-restraint exhibit more compulsive behaviors than do those without SIB and self-restraint. Main caregivers of individuals with the syndrome completed questionnaires. A significant association was found between SIB and self-restraint, and those displaying both behaviors displayed significantly more compulsions than did those not exhibiting them. Findings extend the compulsive behavior theory and highlight areas for further research.
Hyman P; Oliver C; Hall S
American Journal of Mental Retardation
2002
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<a href="http://doi.org/10.1352/0895-8017(2002)107" target="_blank" rel="noreferrer noopener">10.1352/0895-8017(2002)107<0146:SIBSRA>2.0.CO;2</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
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/10.1089/cap.1990.1.237" target="_blank" rel="noreferrer">10.1089/cap.1990.1.237</a>
Proopiomelanocortin (POMC) disregulation and response to opiate blockers
Adult; Naltrexone; Autistic disorder; Pro-Opiomelanocortin; Self-Injurious behavior
Autism is a collection of disorders or subtypes with distinctive or prominent phenotypes and genotypes. The study of adults with autism offers a unique opportunity to examine its phenotypic diversity. Recent evidence has identified disturbances in specific neurochemical systems that are associated with primary autistic symptoms. Establishing biological markers, such as specific neurochemical disturbances, not only confers greater precision in phenotyping individuals but also provides the basis for rational intervention. Our initial studies in adult individuals exhibiting self-injurious behavior (SIB) generated evidence that the proopiomelanocortin disregulated in subgroups of autistic patients. These findings, corroborated in at least 15 other laboratories, indicated that treatment with an opiate blocker, naltrexone (NTX), reduced SIB in 30-70% of individuals observed. However, the effects of NTX on SIB were not simple. We and others have found that concentration of plasma POMC fragments, specifically opioid fragments, contributed to the symptoms of autism and to the response to treatment. Uncoupling of the release of POMC products predicted the efficacy of NTX treatment on the expression of SIB. Uncoupling of POMC fragments among autistic and SIB patients suggested a basic, underlying defect, perhaps in the POMC gene. The findings of a maternal influence on the C-terminal BE fragment among individuals with autism (Leboyer et al. [1999] Soc Biol Psychiatry 45:158-163) and our preliminary findings, reported here, of a mutation in the opioid region of the POMC gene in an autistic individual were consistent with the prospect that a subgroup of patients will be identified who share a POMC genetic defect.
Sandman CA; Spence MA; Smith M
Mental Retardation And Developmental Disabilities Research Reviews
1999
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Journal Article
<a href="http://doi.org/10.1002/(sici)1098-2779(1999)5:4%3C314::aid-mrdd9%3E3.0.co" target="_blank" rel="noreferrer">10.1002/(sici)1098-2779(1999)5:4%3C314::aid-mrdd9%3E3.0.co</a>