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>
Behavioral contingencies and self-mutilation in Lesch-Nyhan disease
Adolescent; Behavior Therapy/mt [Methods]; Child; Preschool; Humans; Lesch-Nyhan Syndrome/px [Psychology]; Lesch-Nyhan Syndrome/th [Therapy]; Male Punishment; Self Mutilation/th [Therapy]; behavioral problems; Lesch-Nyhan syndrome; psychological intervention; aversive stimulation electric shock; positive reinforcement; time-out; self-injury; self-mutilation
Lesch-Nyhan syndrome is a rare, sex-linked, recessive disease that is accompanied by severe self-mutilation, especially finger biting. Evidence is presented suggesting that parental response patterns may contribute to the genesis of the self-injurious behavior (SIB). The therapeutic effectiveness of punishment, positive reinforcement of either SIB or non-SIB, and time-out learning paradigms were evaluated in 5 Ss aged 3-13 yrs. Electric skin shock failed to suppress the behavior. Positive reinforcement of non-self-injury and time-out from social reinforcement were consistently and rapidly effective, indicating a complex interaction of genetic and environmental factors in the production of SIB. Elimination or major reductions in incidence of SIB was maintained during follow-up periods of 2 yrs. (19 ref)
Anderson L; Dancis J; Alpert M
Journal of Consulting and Clinical Psychology
1978
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/10.1037/0022-006X.46.3.529" target="_blank" rel="noreferrer noopener">10.1037/0022-006X.46.3.529</a>
Cognitive abilities of patients with Lesch-Nyhan disease
Male; Child; Humans; Adult; Adolescent; Female; Child Preschool; Social Environment; Combined Modality Therapy; Social Adjustment; Social Behavior; Behavior Therapy; Awareness; Intelligence; Neuropsychological Tests; Achievement; Lesch-Nyhan Syndrome/di [Diagnosis]; Intellectual Disability/di [Diagnosis]; Intellectual Disability/px [Psychology]; Intellectual Disability/th [Therapy]; Language Development Disorders/di [Diagnosis]; Language Development Disorders/px [Psychology]; Language Development Disorders/th [Therapy]; Lesch-Nyhan Syndrome/px [Psychology]; Lesch-Nyhan Syndrome/th [Therapy]; Self-Injurious Behavior/di [Diagnosis]; Self-Injurious Behavior/px [Psychology]; Self-Injurious Behavior/th [Therapy]; Thinking; alertness; behavioral; Lesch-Nyhan syndrome; trajectory; characteristics; attempted suicide; suicide
Parents of 42 patients with Lesch-Nyhan disease completed a questionnaire systematizing caregiver observations of the subject's behavior during a wide variety of daily events. Responses were grouped in nine categories reflecting different aspects of cognitive skills. Only 1 boy appears to have any significant generalized cognitive impairment. The patients' memory for both recent and past events is excellent, their emotional life has a normal range of reactions and is appropriate; they have good concentration, are capable of abstract reasoning, have good self-awareness, and are highly social. However, they are behind in academic ability, with only 15% at grade level for math and reading. Implications for designing educational activities, parenting or caregiver strategies, and research methodology are discussed.
Anderson L T; Ernst M; Davis S V
Journal of Autism and Developmental Disorders
1992
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/bf01058150" target="_blank" rel="noreferrer noopener">10.1007/bf01058150</a>