RESUMEN
This article describes the orthodontic treatment of a patient with Lowe syndrome. The objective of the treatment was to improve the patient's dental relationships and consequently his quality of life. This was achieved by maxillary expansion and extraction of the mandibular central incisors and maxillary deciduous canines. The teeth were aligned and leveled with a fixed orthodontic appliance. Satisfactory results were obtained at the end of treatment, with substantial improvement in dental esthetics, occlusal function, and facial profile.
Asunto(s)
Maloclusión/terapia , Síndrome Oculocerebrorrenal/complicaciones , Ortodoncia Correctiva , Adolescente , Cefalometría/métodos , Estética Dental , Humanos , Masculino , Maloclusión Clase II de Angle/terapia , Síndrome Oculocerebrorrenal/psicología , Técnica de Expansión Palatina , Calidad de Vida , Retrognatismo/terapia , Extracción Seriada , Técnicas de Movimiento Dental , Resultado del TratamientoRESUMEN
BACKGROUND: Self-injurious and aggressive behaviours are reported as components of some behavioural phenotypes but there are few studies comparing across syndrome groups. In this study we examined the prevalence of these behaviours and the associated person characteristics in seven genetic syndromes. METHODS: Questionnaire data on self-injury and aggression, mood, hyperactivity, autism spectrum disorder and repetitive behaviour were collected on Angelman (AS, n=104), Cornelia de Lange (CdLS, 101), Cri du Chat (CdCS, 58), Fragile X (FXS, 191), Lowe (LS, 56), Prader-Willi (PWS, 189) and Smith-Magenis (SMS, 42) syndromes. RESULTS: A significantly higher prevalence of self-injury was evident in CdCS, CdLS, FXS, PWS, LS and SMS. The prevalence of aggression was significantly heightened in AS and SMS. Self-injury was associated with repetitive and impulsive behaviour in CdLS, FXS, PWS and LS. Impulsivity and overactivity were significantly higher in those showing aggression across all syndrome groups. CONCLUSIONS: These data quantify the risk for self-injury and aggression in the syndromes studied with implications for early intervention. The associations between these behaviours and person characteristics both within and between syndromes warrant further research.
Asunto(s)
Agresión , Síntomas Conductuales/epidemiología , Trastornos Generalizados del Desarrollo Infantil/epidemiología , Enfermedades Genéticas Congénitas/epidemiología , Conducta Autodestructiva/epidemiología , Anomalías Múltiples/epidemiología , Anomalías Múltiples/genética , Anomalías Múltiples/psicología , Adolescente , Adulto , Síndrome de Angelman/epidemiología , Síndrome de Angelman/psicología , Síntomas Conductuales/genética , Síntomas Conductuales/psicología , Estudios de Casos y Controles , Niño , Trastornos Generalizados del Desarrollo Infantil/psicología , Preescolar , Trastornos de los Cromosomas/epidemiología , Trastornos de los Cromosomas/psicología , Comorbilidad , Síndrome del Maullido del Gato/epidemiología , Síndrome del Maullido del Gato/psicología , Síndrome de Cornelia de Lange/epidemiología , Síndrome de Cornelia de Lange/psicología , Femenino , Síndrome del Cromosoma X Frágil/epidemiología , Síndrome del Cromosoma X Frágil/psicología , Enfermedades Genéticas Congénitas/psicología , Humanos , Discapacidad Intelectual/psicología , Masculino , Persona de Mediana Edad , Síndrome Oculocerebrorrenal/epidemiología , Síndrome Oculocerebrorrenal/psicología , Síndrome de Prader-Willi/epidemiología , Síndrome de Prader-Willi/psicología , Prevalencia , Conducta Autodestructiva/psicología , Síndrome de Smith-Magenis/epidemiología , Síndrome de Smith-Magenis/psicología , Síndrome , Adulto JovenRESUMEN
The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction. Although there is a wide range of intellectual function in affected individuals, it is often compromised by a high prevalence of maladaptive behaviors, including tantrums, stubborness, and stereotypy. Whether these behaviors simply reflect the multiple disabilities found in some developmentally impaired individuals with or without OCRL, or a specific genetically-determined behavioral phenotype of OCRL, is unknown. Controls were matched for sex, age, visual impairment, and adaptive functioning and compared with OCRL patients on three standardized measures of adaptive/maladaptive behaviors. Forty-three matched pairs of OCRL and control subjects were identified. Both groups were similar in communication, daily living, socialization, and motor skills, in socioeconomic status, and in measures of parental stress. Individuals with OCRL displayed significantly more severe maladaptive behaviors than control boys, as measured by the Vineland Adaptive Behavior Scales (VABS), with 41% of the difference between the two groups attributable to the diagnosis of OCRL. Twelve maladaptive behaviors measured on the VABS appeared more frequently in OCRL than in controls. Five of these 12 behaviors, i.e., temper tantrums, irritability, complex repetitive behaviors (stereotypy)/mannerisms, obsessions/unusual preoccupations, and negativism, were identified by discriminant function analysis to significantly distinguish between controls and OCRL individuals. The diagnosis of OCRL is associated with a behavioral phenotype consisting of temper tantrums, stereotypy, stubborness, and obsessions/unusual preoccupations. This phenotype cannot be attributed solely to the visual, motor, and intellectual disabilities characteristic of OCRL, and may represent a specific effect of the OCRL gene on the central nervous system.
Asunto(s)
Trastornos de la Conducta Infantil/genética , Trastornos Mentales/genética , Síndrome Oculocerebrorrenal/psicología , Fenotipo , Anomalías Múltiples/psicología , Adolescente , Adulto , Agresión , Niño , Preescolar , Emociones , Femenino , Humanos , Masculino , Pruebas Psicológicas , Conducta Estereotipada , Síndrome , Síndrome de Tourette/psicología , Trastornos de la Visión/psicologíaRESUMEN
BACKGROUND: The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked disorder characterized by congenital cataracts, cognitive impairment, and renal tubular dysfunction. Significant behavioral difficulties have been reported, but no formal study of intelligence or behavior has been described. METHODS: We surveyed IQ and behavior using archival data and standardized instruments in 47 affected males. RESULTS: Mean IQ was in the moderate mental retardation range (40 < or = IQ < or = 54), with 25% of tested individuals in the normal range (IQ > or = 70). The OCRL population was comparable to a normative population with mental retardation in language, communication, and socialization skills, but lower in independent living skills than means of either populations of individuals with mental retardation or visual impairment. Maladaptive behaviors, particularly stubbornness, temper tantrums, and stereotypic behaviors, were very frequent (> 80%). CONCLUSIONS: The diagnosis of OCRL is compatible with normal intelligence. Maladaptive behaviors significantly interfere with adaptive functions. These behaviors appear to define a characteristic behavioral phenotype in OCRL.