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2.
Clin Pediatr (Phila) ; 56(14): 1301-1311, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28056556

RESUMO

To better understand adolescents experiencing peer victimization, ostracism, and emotional health problems, this study aimed to describe a cohort of middle school students identified as having school peer-related social difficulties as 2 groups: those with mental health diagnoses (MHDs; n = 17) and those without diagnoses (n = 8). Participants were administered a test battery to examine communication ability, social responsiveness, social activity, ostracism, victimization, and emotional health. Results showed that adolescents with MHDs, relative to those without, scored significantly lower on measures of communication ability, social responsiveness, and social activity but similarly on measures of victimization, ostracism, and internalizing/externalizing factors. Results suggest that adolescents with and without MHDs can endure ostracism and peer victimization to a similar extent. Because ostracism and victimization have serious morbidity in adolescents, physicians and caregivers must look for signs in all adolescents, irrespective of MHD. Recommendations for appropriate primary care management are discussed.


Assuntos
Comportamento do Adolescente/psicologia , Vítimas de Crime/psicologia , Transtornos Mentais/psicologia , Grupo Associado , Isolamento Social/psicologia , Estudantes/psicologia , Adolescente , Criança , Vítimas de Crime/estatística & dados numéricos , Feminino , Humanos , Masculino , Estudantes/estatística & dados numéricos
3.
Mol Syndromol ; 7(3): 138-43, 2016 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-27587989

RESUMO

Haploinsufficient microdeletions within chromosome 4q25 are often associated with Axenfeld-Rieger syndrome. A de novo 4q25 deletion, 675 kb proximal to PITX2, has previously been reported once in an adult patient. The patient did not have Axenfeld-Rieger anomaly, but instead had intellectual disability and a complex behavioral phenotype with withdrawn, stereotypic, and ritualistic behavior. Array comparative genome hybridization demonstrated a smaller, overlapping 4q25 deletion in a 2-year-old patient and his mother, both having significant phenotypic overlap with the initially reported patient. All 3 patients have distinct facial features (including mild hypotelorism and subtle mandibular asymmetry), developmental delay, and complex behavioral difficulties. A genotype-phenotype correlation narrows the shared phenotype to a common COL25A1 gene aberration and proposes that the concurrent EGF gene loss has a significant impact on the phenotypic severity. Overall, our patients provide data to support the existence of a novel 4q25 proximal deletion syndrome.

4.
Clin Pediatr (Phila) ; 54(12): 1192-9, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25676832

RESUMO

Pediatricians must recognize and respond to adolescents with social skills deficits because they are at heightened risk for mental health disorders, peer victimization, and social isolation. The aim of this project was to describe a group of adolescent children at the time of enrollment into social skills treatment. Ninety participants with neurodevelopmental weaknesses or disorders, to include high-functioning autism spectrum disorder, participated. Results showed that adolescents referred for social skills deficits had communication weaknesses and concerns in everyday social reciprocal behavior. They rarely hosted get-togethers with same-aged peers and were not often invited by same-aged peers to get-togethers. Twenty-nine percent of participants reported that they were victims of bullying, and more than half of participants reported clinically significant ostracism experiences. Results are discussed in terms of the pediatrician's role in the prevention, identification, and treatment of social skills deficits in light of recent research showing brain neuroplasticity extending into adolescence.


Assuntos
Pediatria , Papel do Médico , Psicologia do Adolescente , Habilidades Sociais , Adolescente , Transtorno do Espectro Autista , Bullying , Criança , Comunicação , Feminino , Humanos , Masculino , Transtornos do Neurodesenvolvimento , Grupo Associado
5.
Dev Neurorehabil ; 18(5): 322-9, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-24180637

RESUMO

OBJECTIVE: The aim of this study was to describe the communication ability of individuals with trisomy 18 and trisomy 13 syndromes. METHODS: Parents reported on children's potential communication acts, words, spontaneous gesture, and augmentative and alternative communication (AAC) using a parent report inventory (n = 32; age range 3-35 years). Potential communicative acts are defined as behaviors produced by an individual that may be interpreted by others to serve communicative functions. RESULTS: Potential communicative acts categorized as body movement displayed the highest median rank for reported occurrence followed by vocalization and facial expression. Although symbolic forms were ranked lower, more than half of the parents (66%) reported that their children produced at least one word, gesture or AAC form. Challenging behaviors or stereotypic movement displayed lowest median ranks. CONCLUSIONS: Results are discussed in terms of communication potential and the need to address AAC in trisomy 18 and 13.


Assuntos
Transtornos Cromossômicos/psicologia , Comunicação não Verbal , Trissomia/fisiopatologia , Adolescente , Adulto , Criança , Pré-Escolar , Transtornos Cromossômicos/fisiopatologia , Cromossomos Humanos Par 13 , Cromossomos Humanos Par 18 , Feminino , Humanos , Relações Interpessoais , Masculino , Síndrome da Trissomia do Cromossomo 13 , Síndrome da Trissomía do Cromossomo 18
6.
Am J Med Genet A ; 164A(5): 1293-7, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24664931

RESUMO

Pectus carinatum and excavatum have multiple genetic associations. We report on a novel association of these deformities in a 34-month-old male and his father, likely due to a small intragenic deletion of MNAT1 (ménage a trois 1 gene). Both individuals share a deletion of MNAT1 located at 14q23.1 and an interstitial duplication of CHRNA7 located at 15q13.3. Deletion of MNAT1 has been associated with connective tissue abnormalities and is likely the etiology of the malformations, whereas the duplication of CHNRA7 is unlikely related due to the lack of association with any such connective tissue abnormalities.


Assuntos
Proteínas de Transporte/genética , Tórax em Funil/genética , Deleção de Sequência , Adulto , Proteínas de Ciclo Celular , Pré-Escolar , Hibridização Genômica Comparativa , Fácies , Tórax em Funil/diagnóstico , Estudos de Associação Genética , Humanos , Masculino , Fenótipo , Fatores de Transcrição
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