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1.
J Clin Psychol Med Settings ; 30(4): 770-779, 2023 12.
Artículo en Inglés | MEDLINE | ID: mdl-36840783

RESUMEN

Children with electrical status epilepticus in sleep (ESES) often present with cognitive deficits and behavioral difficulties. Children that present with autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), intellectual disability, and ESES would be expected to manifest more complex symptoms and increased behavioral difficulties given the nature of these disorders. Despite the complex presentation, there is little research to support effective treatments that manage behavior challenges and associated symptoms of ASD in such patients. In the present case report, the authors implemented a validated parent management training intervention, The Research Unit on Behavioral Interventions (RUBI) Autism Network Parent Training program (RUBI-PT) via telemedicine to manage symptoms of ADHD, ASD, and disruptive behaviors in an 8-year-old South-Asian boy with ESES and associated mild intellectual disability. The family participated in 15 RUBI-PT sessions over 22 weeks. Parent report and ratings using the clinical global impression, improvement scale (CGI-I) indicated reductions in challenging behavior and improvement in adaptive skills. The current case report demonstrates the utility of RUBI-PT in the treatment of behavioral difficulties in a patient with ASD, ADHD, and ESES. Further, the present study explores future directions for the use of RUBI-PT to address behavioral challenges associated with ESES and commonly co-occurring conditions and highlights the importance of cultural responsive practice in the context of parent management training.


Asunto(s)
Trastorno por Déficit de Atención con Hiperactividad , Trastorno del Espectro Autista , Discapacidad Intelectual , Problema de Conducta , Estado Epiléptico , Masculino , Humanos , Niño , Trastorno del Espectro Autista/complicaciones , Trastorno del Espectro Autista/terapia , Discapacidad Intelectual/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/complicaciones , Trastorno por Déficit de Atención con Hiperactividad/terapia , Estado Epiléptico/terapia , Estado Epiléptico/tratamiento farmacológico , Sueño
2.
Am J Med Genet A ; 185(12): 3576-3583, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-32954672

RESUMEN

It has been estimated that 10-15% of people with Robinow syndrome (RS) show delayed development, but no studies have formally assessed developmental domains. The objective of this study is to provide the first description of cognitive, adaptive, and psychological functioning in RS. Thirteen participants (10 males) aged 4-51 years were seen for neuropsychological screening. Eight had autosomal-dominant RS (DVL1, n = 5; WNT5A, n = 3), four had autosomal-recessive RS (NXN, n = 2; ROR2, n = 2), and one had a mutation on an RS candidate gene (GPC4). Participants completed measures of intellectual, fine-motor, adaptive, executive, and psychological functioning. Findings indicated generally average intellectual functioning and low-average visuomotor skills. Adaptive functioning was average in autosomal-recessive RS (RRS) but low average in autosomal-dominant RS (DRS). Parent-report indicated executive dysfunction and attention problems in 4/8 children, 3/4 of whom had a DVL1 variant; adult self-report did not indicate similar difficulties. Learning disabilities were also reported in 4/8 individuals with DRS, 3/4 of whom had a DVL1 variant. Peer problems were reported for a majority of participants, many of whom also reported emotional concerns. Altogether, the findings indicate average neurocognitive functioning in RRS. In contrast, DRS, especially DVL1 pathogenic alleles, may confer specific risk for neurodevelopmental disability.


Asunto(s)
Anomalías Craneofaciales/genética , Discapacidades del Desarrollo/genética , Proteínas Dishevelled/genética , Enanismo/genética , Deformidades Congénitas de las Extremidades/genética , Trastornos Neurocognitivos/genética , Anomalías Urogenitales/genética , Proteína Wnt-5a/genética , Adolescente , Adulto , Alelos , Niño , Preescolar , Anomalías Craneofaciales/epidemiología , Anomalías Craneofaciales/fisiopatología , Discapacidades del Desarrollo/epidemiología , Discapacidades del Desarrollo/fisiopatología , Enanismo/epidemiología , Enanismo/fisiopatología , Predisposición Genética a la Enfermedad , Humanos , Discapacidades para el Aprendizaje/genética , Discapacidades para el Aprendizaje/fisiopatología , Deformidades Congénitas de las Extremidades/epidemiología , Deformidades Congénitas de las Extremidades/fisiopatología , Masculino , Persona de Mediana Edad , Trastornos Neurocognitivos/epidemiología , Trastornos Neurocognitivos/fisiopatología , Fenotipo , Funcionamiento Psicosocial , Anomalías Urogenitales/epidemiología , Anomalías Urogenitales/fisiopatología , Adulto Joven
3.
J Clin Psychol Med Settings ; 26(4): 507-515, 2019 12.
Artículo en Inglés | MEDLINE | ID: mdl-30470962

RESUMEN

Most children with hypothalamic hamartoma (HH) manifest symptoms of epilepsy and associated cognitive deficits and behavioral difficulties as well as central precocious puberty (CPP). However, there is little to no research examining behavioral difficulties in children with HH without epilepsy, nor is there research examining treatments to address the behavioral difficulties of patients with HH without epilepsy. In the current case report, the authors implemented a validated parent management training program [the Brief Behavioral Intervention (BBI)], to treat symptoms of ADHD and disruptive behavior in a 6-year-old female patient with HH and CPP. The family participated in six BBI sessions over a period of 8 weeks. Parent behavioral ratings suggested significant reductions of symptoms of ADHD and disruptive behaviors to the normal range. The current case report demonstrates the effectiveness of the BBI program in the treatment of behavioral difficulties in a patient with HH and CPP. Further, the present study explores behavioral manifestations rarely explored in patients with HH without epilepsy.


Asunto(s)
Déficit de la Atención y Trastornos de Conducta Disruptiva/complicaciones , Déficit de la Atención y Trastornos de Conducta Disruptiva/terapia , Terapia Conductista/métodos , Conducta Infantil/psicología , Hamartoma/complicaciones , Enfermedades Hipotalámicas/complicaciones , Psicoterapia Breve/métodos , Déficit de la Atención y Trastornos de Conducta Disruptiva/psicología , Niño , Femenino , Hamartoma/psicología , Humanos , Enfermedades Hipotalámicas/psicología
4.
Vaccine ; 34(11): 1335-42, 2016 Mar 08.
Artículo en Inglés | MEDLINE | ID: mdl-26868082

RESUMEN

A contentious theory espoused by some parents is that regressive-onset of autism spectrum disorder (ASD) is triggered by vaccines. If this were true, then vaccine receipt should be higher in children with regressive-onset ASD compared with other patterns of onset. Parental report of rate of receipt for six vaccines (DPT/DTaP, HepB, Hib, polio, MMR, varicella) was examined in children with ASD (N=2755) who were categorized by pattern of ASD onset (early onset, plateau, delay-plus-regression, regression). All pairwise comparisons were significantly equivalent within a 10% margin for all vaccines except varicella, for which the delay-plus-regression group had lower rates of receipt (81%) than the early-onset (87%) and regression (87%) groups. Findings do not support a connection between regressive-onset ASD and vaccines in this cohort.


Asunto(s)
Trastorno del Espectro Autista/clasificación , Vacunación/estadística & datos numéricos , Adolescente , Canadá , Vacuna contra la Varicela/administración & dosificación , Niño , Preescolar , Vacunas contra Difteria, Tétanos y Tos Ferina Acelular/administración & dosificación , Femenino , Vacunas contra Haemophilus/administración & dosificación , Vacunas contra Hepatitis B/administración & dosificación , Humanos , Masculino , Vacuna contra el Sarampión-Parotiditis-Rubéola/administración & dosificación , Padres , Vacunas contra Poliovirus/administración & dosificación , Estados Unidos
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