ABSTRACT
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.
Subject(s)
Chromosome Deletion , Chromosome Disorders/genetics , Chromosome Disorders/nursing , Chromosomes, Human, Pair 16 , Developmental Disabilities/genetics , Developmental Disabilities/nursing , Neonatal Nursing/methods , Female , Humans , Infant , Infant, Newborn , Treatment OutcomeABSTRACT
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.
Subject(s)
Chromosome Disorders/nursing , Trisomy , Chromosomes, Human, Pair 18 , Decision Making , Hospice and Palliative Care Nursing , Humans , Parents , Pediatric Nursing , Prognosis , Trisomy 18 SyndromeABSTRACT
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.
Subject(s)
Chromosome Disorders/diagnosis , Cytogenetic Analysis , Developmental Disabilities/diagnosis , Intellectual Disability/diagnosis , Pediatric Nurse Practitioners/education , Chromosome Disorders/nursing , Cytogenetic Analysis/methods , Developmental Disabilities/nursing , Female , Humans , Infant, Newborn , Intellectual Disability/nursing , Male , Medical History Taking , Pediatric Nurse Practitioners/standards , Physical Examination , Practice Guidelines as Topic , PregnancyABSTRACT
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.
Subject(s)
Chromosome Deletion , Chromosome Disorders/psychology , Chromosomes, Human, Pair 1/genetics , Hospitalization , Professional-Family Relations , Attitude to Death , Chromosome Disorders/genetics , Chromosome Disorders/nursing , Chromosomes, Human, Pair 1/ultrastructure , Dissent and Disputes , Emotions , Female , Heart Arrest/etiology , Heart Arrest/nursing , Hospital Units , Humans , Intensive Care Units , Palliative Care , Privacy , Syndrome , Terminal Care , Truth Disclosure , Young AdultABSTRACT
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.
Subject(s)
Caregivers/psychology , Chromosome Disorders/nursing , Parents/psychology , Stress, Psychological/psychology , Adaptation, Psychological , Adolescent , Analysis of Variance , Angelman Syndrome/complications , Angelman Syndrome/nursing , Angelman Syndrome/psychology , Anxiety/etiology , Anxiety/psychology , Autistic Disorder/nursing , Autistic Disorder/psychology , Case-Control Studies , Child , Child Behavior Disorders/complications , Child Behavior Disorders/nursing , Child Behavior Disorders/psychology , Child Rearing/psychology , Child, Preschool , Chromosome Disorders/complications , Chromosome Disorders/psychology , Cri-du-Chat Syndrome/complications , Cri-du-Chat Syndrome/nursing , Cri-du-Chat Syndrome/psychology , De Lange Syndrome/complications , De Lange Syndrome/nursing , De Lange Syndrome/psychology , Depression/etiology , Depression/psychology , Developmental Disabilities/complications , Developmental Disabilities/nursing , Developmental Disabilities/psychology , Female , Humans , Male , Parent-Child Relations , Self-Injurious Behavior , Sex Factors , Social Support , Stress, Psychological/complications , Young AdultABSTRACT
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.
