RESUMO
Chromosome 16p13.11 microdeletion syndrome is a rare copy number variant that carries increased risks for complications in the neonatal period and throughout the life span. Clinical manifestations and associated defects known to present in the neonatal period include motor delay, facial dysmorphisms, microcephaly, gastroesophageal reflux disease (GERD), and congenital heart defects. Management in the neonatal period focuses on associated comorbidities, including motor delay with or without GERD, which commonly manifests as feeding difficulties. Life span implications of chromosome 16p13.11 microdeletion syndrome include developmental, speech, and language delay; psychiatric and behavioral problems; seizure disorders; and, less commonly, obesity. Nursing assessment is critical to the early identification of nonspecific abnormalities associated with de novo genetic disorders. Early identification and diagnosis of chromosome 16p13.11 microdeletion syndrome are critical to optimizing outcomes throughout infancy and across the life span. We present a case report of an infant diagnosed with chromosome 16p13.11 microdeletion. A discussion of genetic influences, associated clinical manifestations, diagnostics, management, and health promotion strategies are presented to establish core knowledge of chromosome 16p13.11 microdeletion.
Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/enfermagem , Cromossomos Humanos Par 16 , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/enfermagem , Enfermagem Neonatal/métodos , Feminino , Humanos , Lactente , Recém-Nascido , Resultado do TratamentoRESUMO
Edwards' syndrome is a serious genetic condition that affects fetal cellular functions, tissue development and organogenesis. Most infants with the syndrome are female, but there is no race predominance.
Assuntos
Transtornos Cromossômicos/enfermagem , Trissomia , Cromossomos Humanos Par 18 , Tomada de Decisões , Enfermagem de Cuidados Paliativos na Terminalidade da Vida , Humanos , Pais , Enfermagem Pediátrica , Prognóstico , Síndrome da Trissomía do Cromossomo 18RESUMO
Patients with genetic disorders require specific types of cytogenetic testing for accurate diagnosis and prognosis followed by prompt treatment. This primer will serve as a guide for pediatric nurse practitioners on the use of various cytogenetic testing for the diagnosis of genetic disorders. Knowledge of the latest cytogenetic technologies will facilitate diagnosis and counseling related to genetic abnormalities such as inherited disorders, mental retardation, developmental delay, and autism. This reference will enable pediatric nurse practitioners to help identify patients with various inherited genetic disorders and provide subsequent monitoring and treatment.
Assuntos
Transtornos Cromossômicos/diagnóstico , Análise Citogenética , Deficiências do Desenvolvimento/diagnóstico , Deficiência Intelectual/diagnóstico , Profissionais de Enfermagem Pediátrica/educação , Transtornos Cromossômicos/enfermagem , Análise Citogenética/métodos , Deficiências do Desenvolvimento/enfermagem , Feminino , Humanos , Recém-Nascido , Deficiência Intelectual/enfermagem , Masculino , Anamnese , Profissionais de Enfermagem Pediátrica/normas , Exame Físico , Guias de Prática Clínica como Assunto , GravidezRESUMO
Laura was unusual. She had always been different and at times difficult. She was born with a genetic disorder, diagnosed as 1p36 deletion syndrome when she was 21 years old. At 23 she suffered her first cardiac arrest at home and entered the hospital system for the first time apart from infancy. After initially appearing to do well, she suffered a second cardiac arrest 10 weeks after admission. This was followed by an irreversible deterioration and she died 14 weeks after admission. We her family had been with her throughout her traumatic experience. This is our story.
Assuntos
Deleção Cromossômica , Transtornos Cromossômicos/psicologia , Cromossomos Humanos Par 1/genética , Hospitalização , Relações Profissional-Família , Atitude Frente a Morte , Transtornos Cromossômicos/genética , Transtornos Cromossômicos/enfermagem , Cromossomos Humanos Par 1/ultraestrutura , Dissidências e Disputas , Emoções , Feminino , Parada Cardíaca/etiologia , Parada Cardíaca/enfermagem , Unidades Hospitalares , Humanos , Unidades de Terapia Intensiva , Cuidados Paliativos , Privacidade , Síndrome , Assistência Terminal , Revelação da Verdade , Adulto JovemRESUMO
BACKGROUND: The current study focuses on mothers and fathers of children with three rare genetic syndromes that are relatively unexplored in terms of family experience: Angelman syndrome, Cornelia de Lange syndrome and Cri du Chat syndrome. METHOD: Parents of children with Angelman syndrome (n =15), Cornelia de Lange syndrome (n = 16) and Cri du Chat syndrome (n = 18), and a matched comparison group of parents of children with autism and intellectual disabilities (n = 20) completed questionnaires on both psychological distress (stress, anxiety, depression) and positive psychological functioning. RESULTS: Parents of children with Angelman syndrome consistently reported the highest levels of psychological distress, and parents of children with Cornelia de Lange syndrome the lowest, with parents of children with Cri du Chat syndrome and autism scoring between these two. Positive psychological functioning was similar across the four aetiology groups. CONCLUSIONS: Parents of children with rare genetic syndromes are at risk for high levels of stress and mental health problems. Methodological issues and the practical applications of these results are discussed.
Assuntos
Cuidadores/psicologia , Transtornos Cromossômicos/enfermagem , Pais/psicologia , Estresse Psicológico/psicologia , Adaptação Psicológica , Adolescente , Análise de Variância , Síndrome de Angelman/complicações , Síndrome de Angelman/enfermagem , Síndrome de Angelman/psicologia , Ansiedade/etiologia , Ansiedade/psicologia , Transtorno Autístico/enfermagem , Transtorno Autístico/psicologia , Estudos de Casos e Controles , Criança , Transtornos do Comportamento Infantil/complicações , Transtornos do Comportamento Infantil/enfermagem , Transtornos do Comportamento Infantil/psicologia , Educação Infantil/psicologia , Pré-Escolar , Transtornos Cromossômicos/complicações , Transtornos Cromossômicos/psicologia , Síndrome de Cri-du-Chat/complicações , Síndrome de Cri-du-Chat/enfermagem , Síndrome de Cri-du-Chat/psicologia , Síndrome de Cornélia de Lange/complicações , Síndrome de Cornélia de Lange/enfermagem , Síndrome de Cornélia de Lange/psicologia , Depressão/etiologia , Depressão/psicologia , Deficiências do Desenvolvimento/complicações , Deficiências do Desenvolvimento/enfermagem , Deficiências do Desenvolvimento/psicologia , Feminino , Humanos , Masculino , Relações Pais-Filho , Comportamento Autodestrutivo , Fatores Sexuais , Apoio Social , Estresse Psicológico/complicações , Adulto JovemRESUMO
Prenatal testing for Down syndrome and neural tube defects has become routine, and testing for other genetic conditions is becoming commonplace. Counseling about these tests involves a discussion of risk information, so pregnant women and their partners can use the information effectively when they make choices about testing. Discussing risk can be challenging, as many individuals, particularly those of lower literacy, have a poor understanding of the numerical concept of risk. Furthermore, whether risk is comprehended accurately or not, it is interpreted by patients in light of their existing knowledge and past experiences. Strategies available to optimize understanding of risk include communication of risk figures as frequencies rather than as probabilities or percentages and explicit discussion of a woman's preconceptions about her risk and about the condition being tested for.