Seizures in trisomy 18: Prevalence, description, and treatment.

Changes in medical intervention over the last decade have improved outcomes for individuals with trisomy 18, the second most common human aneuploidy syndrome at birth. As children with trisomy 18 live longer, a shared concern of medical experts and parents is the occurrence and treatment of seizures. Previously published surveillance guidelines for this condition have not addressed seizure management. Using parent-reported data collected as part of the Tracking Rare Incidence Syndromes project, we report on the prevalence, course, and management of seizures in individuals with trisomy 18. Twenty-eight percent (52/186) of individuals diagnosed with trisomy 18 in our retrospective cohort experienced generalized, focal, or mixed seizures at some point in their lifetime. For many individuals, seizures were effectively managed by broad-spectrum anti-seizure medications. Correlation analysis showed that focal and generalized seizures were more likely to occur in individuals who had previously experienced infantile spasms or central apnea. Electroencephalogram testing should be considered as part of a standard screening approach in individuals with trisomy 18 to enable early diagnosis and treatment of seizures. An international registry that incorporates parent-reported and clinical data for patients with trisomy 18 may facilitate ongoing research and recruitment into clinical trials for seizure management.

Medical interventions and survival by gender of children with trisomy 18.

Research has typically shown limited aggressive medical interventions and low survival rates for children with full trisomy 18. Recent studies provide more positive results. This study examined 82 children with full trisomy 18 drawn from the Tracking Rare Incidence Syndromes (TRIS) project database. Children were classified into three groups according to the highest intervention received: "hospice or no intervention" (n = 5, 6.1%), "necessary interventions (enteral feeding, ventilator use)" (n = 46, 56.1%), and "aggressive interventions (surgery)" (n = 31, 37.8%). Seven of 14 male children (50%) and 52 of 68 female children (76.5%) were living at the time of survey completion. Additionally, information about any interventions used during the care of these children was also provided. It was found that three males (37.5%) and 28 females (48.3%) had used hospice care at some point; 12 males (85.7%) and 61 females (89.7%) received enteral feeding at some point; 7 males (58.3%) and 25 females (38.5%) had ventilator; and 7 males (50%) and 33 females (48.5%) underwent some form of surgery. These results suggest improved outcomes when given necessary and aggressive medical interventions. Implications and recommendations for further research are provided. © 2016 Wiley Periodicals, Inc.

An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18.

Trisomy 18 (Edwards syndrome) is the second most common autosomal trisomy after trisomy 21. Medical issues commonly include cardiac defects, such as ventricular septal defect (VSD) and atrial septal defect (ASD). If untreated, these conditions can contribute to the associated infant mortality. The objective of the study was review parent-reported information on 84 cases with full trisomy 18 focusing on prenatal and postnatal assessment and confirmation of cardiac defects and on subsequent treatment with cardiac surgery and post-surgery outcomes. At birth, 65 parent responses indicated the presence of VSD (77.4%), 38 ASD (45.2%), and 50 patent ductus arteriosus (PDA) (59.5%). The presence of multiple cardiac defects was also analyzed including 25 cases with VSD, ASD, and PDA at birth. The total reduced to 18 at survey completion. Twenty-four cases had one or more cardiac defects repaired for a total of 34 corrective surgeries. Age at surgery varied from 2 weeks to 41 months of age with most performed under 1 year of age. Twenty-one cases were still living at the time of survey completion (87.5%). From these date we provide recommendations and implications.

Developmental status of 22 children with trisomy 18 and eight children with trisomy 13: implications and recommendations.

Trisomy 18 and trisomy 13 are conditions often referred to as "incompatible with life" or "lethal anomalies." If there is long-term survival, the outlook is considered "grim." Developmental status is presumed to be minimal. Yet, Baty et al. [1994; 49:189-194] described a variety of developmental skills in their sample. An additional 22 children with trisomy 18 and eight with trisomy 13 are described here. A range of developmental skills is noted with strengths in the language and communication, gross and fine motor and social-emotional domains including indicating preferences, exploration of objects and a range of voluntary mobility. These results serve to expand the knowledge base on developmental status for these groups and advance the need to further explore developmental abilities rather than focus on deficits. Avenues for future research, implications, and recommendations are provided.

Twenty-five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status.

Limited literature exists on children and adults diagnosed with the mosaic form of trisomy 9. Data from the Tracking Rare Incidence Syndromes (TRIS) project has provided physical characteristics and medical conditions for 14 individuals. This article provides TRIS Survey results of 25 additional cases at two data points (birth and survey completion) as well as developmental status. Results confirmed a number of phenotypic features and medical conditions. In addition, a number of cardiac anomalies were reported along with feeding and respiratory difficulties in the immediate postnatal period. In addition, developmental status data indicated a range in functioning level up to skills in the 36 and 48-month range. Strengths were also noted across the sample in language and communication, fine motor and social-emotional development. Implications for professionals caring for children with this genetic condition are offered.

Nine children over the age of one year with full trisomy 13: a case series describing medical conditions.

Trisomy 13 (Patau syndrome), identified by Patau and colleagues [1960; Lancet 1: 790-793] is the third most common autosomal condition. Population studies indicate less than one in 10 children reaches their first birthday. In the face of mixed findings and recommendations for treatment, additional research is needed to further determine what contributes to longevity and implications for treatment for presenting medical conditions. The purpose of the present study is to report on presenting medical conditions and the presence or absence of the specific conditions (age at survey completion). Data on nine survivors (seven female, two male) with trisomy 13 indicated mean gestational age of approximately 36 weeks, birth weight ranging from 1100 to 3290 g and mean length of 45.3 cm. Length of hospital stay after birth varied. The majority of infants presented with well-known physical characteristics. Medical conditions and their treatment varied at birth and at survey completion. Notably, several infants' cardiac anomalies resolved without surgical intervention. Surgeries were provided for a range of conditions including gastrostomy tube placement to address feeding issues and removal of intestinal blockage. There were no reports of holoprosencephaly. Implications and recommendations are provided.

Neonatal experiences of newborns with full trisomy 18.

PURPOSE: To provide information about neonatal experiences for newborns with full trisomy 18 (t18). SUBJECTS: Mothers of 21 newborns with full t18 (13 survivors; 8 who died prior to mothers' participation in the study). DESIGN: Mixed method, descriptive, online survey. METHODS: Subjects completed an online survey. Data were downloaded into an SPSS database. Descriptive statistics were used to analyze resulting data. MAIN OUTCOME MEASURES: Subjects' responses on Tracking Rare Incidence Syndromes survey. PRINCIPAL RESULTS: Newborns presented with syndrome-related physical characteristics (eg, low-set ears, small jaw) and medical conditions (eg, heart defects). Gestational age was generally older than what is described in the existent literature. In the NICU, newborns were provided with a variety of equipments (eg, nasal cannula, pulse oximeter) and received treatments including blood transfusions and echocardiograms. Data also indicate longer survival rates (103.3 months for survivors, 37.5 months for nonsurvivors) than that described in the literature. CONCLUSIONS: Data indicate presence of common presenting physical and medical characteristics and varied medical assistance to newborns with full t18.

Partnerships between mothers and professionals in the NICU: caregiving, information exchange, and relationships.

PURPOSE: The purpose of this study was to examine the perspectives of mothers, nurses, and neonatologists on the importance and implementation of NICU practices related to caregiving, information exchange, and relationships within the context of family-centered care. DESIGN: This study design was descriptive. The PARTNERS Questionnaire was developed and implemented, including both quantitative and qualitative items in the three areas (caregiving, information exchange, relationships). For the parent participants, it was a retrospective study. SAMPLE: Two hundred fifteen questionnaires were distributed to professionals and 157 questionnaires were mailed to mothers of NICU graduates. A total of 196 questionnaires (53 percent) was returned (55 mothers, 18 neonatologists, and 123 nurses). RESULTS: Ratings of importance to the respondent and ratings of degree of implementation of items in the three areas were uniformly high. Mothers and nurses had significantly higher ratings than neonatologists in implementation of caregiving. In addition, mothers and nurses rated importance higher than implementation for the areas of information exchange and relationships.