Road to a rare diagnosis: Description of novel unbalanced translocation causing partial trisomy 17p.

Trisomy 17 is a rare chromosomal disorder. Existing literature on the topic is limited and mostly refer to mosaic Trisomy 17 cases. Our report summarizes the 70-day clinical course of a late preterm neonate with partial Trisomy 17p karyotype 46,XY,der(14)t(14;17)(p11.1;p11.2) dpat. Trisomy 17 due to unbalanced translocation is rare, and our case elaborates the clinical presentation with intestinal malfunction without any anatomical pathology and urethral diverticulum and the ethical dilemma in decision-making. The male proband was born at 35 weeks with antenatal findings of multiple neurological and other abnormalities such as cystic hygroma, absent corpus collosum, high riding third ventricle, absent cavum septum pellucidum, indented occiput, absent ductus venous, and intrauterine growth restriction. The postnatal findings included significant facial dysmorphisms with short palpebral fissures, hypertelorism, low set ears, micrognathia, hirsutism, and single palmar creases, central hypotonia, and hyperreflexia of upper limbs bilaterally. Genital-urinary assessment revealed a urinary diverticulum and significantly underdeveloped scrotum with undescended testes. Infant had excessive irritability and resistance to sleep despite increasing doses of analgesia and sedation, and persistent respiratory and feeding difficulties. Enteral nutrition could not be established due to profuse and persistent diarrhea, necessitating use of total parenteral nutrition. Microarray assay exhibited a pathogenic copy number gain of approximately 21.4 Mb of chromosome region 17p13.3p11.2. Follow-up chromosome analysis and FISH revealed an abnormal male karyotype with a derivative chromosome 14, resulting from an unbalanced translocation between the short arm of one chromosome 14 and the short arm of one chromosome 17, effectively resulting in trisomy 17p11.2. It was derived from a paternal balanced t(14;17)(p11.1;p11.2) as shown by chromosome analysis and FISH studies. The rarity of this chromosomal disorder contributed to difficulty with prognosis and led to bioethical dilemma regarding life-sustaining measures and quality of life. Through shared decision-making processes and in consideration of poor prognosis, parents decided to withdraw life-sustaining care and the proband died at postnatal day of life 70.

Promoting Attachment Through Healing (PATH): Results of a retrospective feasibility study providing trauma-and-violence-informed care to pregnant women.

AIM: To evaluate the impact of a trauma and violence-informed cognitive behavioural therapy (TVICBT) intervention, compared with standard care on mental health, coping, bonding and maternal-infant attachment among pregnant women with a history of intimate partner violence and who displayed symptomatology consistent with anxiety, depression or post-traumatic stress disorder (PTSD). DESIGN: A mixed-methods case study design was employed, where women either received standard perinatal care or were referred to a specialized TVICBT program. METHODS: Data were collected through a retrospective obstetric medical chart audit in 2017 at an Ontario hospital in a large urban centre. Multiple choice and 'yes/no' questions were analysed using measures of central tendency and dispersion, in addition to frequency counts. Qualitative data from clinical notes were subjected to an inductive content analysis approach to identify key concepts. RESULTS: In total, 69 women participated (intervention group = 37, standard care group = 32). Prevalence of mental illness between groups was consistent, apart from the TVICBT group having a significant increase in PTSD. In the TVICBT group, 83.8% of women (n = 31) expressed perinatal concerns, compared with only 37.5% (n = 12) of the standard care group. More women in the intervention group (94.6%, n = 35) coped successfully in the intrapartum period than the standard care group (78.1%, n = 25). However, more women in the standard care group (97.0%, n = 31) exhibited appropriate bonding behaviours than the TVICBT group (88.6%, n = 31). CONCLUSION: The TVICBT intervention was effective in assisting women to identify triggers during their pregnancy journey, develop appropriate coping strategies and advocate for their needs to best cope. IMPACT: TVICBT offers an effective, individualized, trauma and violence-informed approach to optimize the health outcomes of perinatal women and their infants by promoting positive coping and maternal-infant bonding, thus filling an existing practice gap of a lack of individualized, trauma-informed care.

Exploring mothers' experiences of trauma and violence-informed cognitive behavioural therapy following intimate partner violence: a qualitative case analysis.

PURPOSE: Intimate partner violence (IPV) is a pervasive public health issue impacting one in three women, worldwide. Broadly defined as any act of coercive control within the context of an intimate relationship, IPV often results in significant negative health outcomes. Cognitive Behavioral Therapy (CBT), a mainstay treatment for relational trauma, has particular relevance for women undergoing the many transformations associated with the perinatal period. The findings of this case analysis build upon existing literature supporting the positive impact of Trauma and Violence- Informed CBT (TVICBT) for women who have experienced IPV and are living with mental health challenges. METHODS: As part of a larger mixed-methods study, three women who experienced IPV and received TVICBT during pregnancy participated in in-depth, semi-structured interviews to determine the perceived value and acceptability of this intervention. FINDINGS: Insights gained herein, serve to enrich current evidence, suggesting that TVICBT provided during pregnancy may hold promise for the treatment of IPV-related mood and anxiety disorders. CONCLUSIONS: Given that improved perinatal mental health has been linked to enhanced maternal resiliency and quality of life, greater maternal-infant attachment, and positive child health outcomes, this research has the potential to bridge the critical knowledge gap at the intersection of motherhood, trauma, and mental health.

Changes in Care- A Systematic Scoping Review of Transitions for Children with Medical Complexities.

BACKGROUND: Children with medical complexity (CMC) and their parents are affected physically and mentally during transitions in care. Coordinated models of care show promise in improving health outcomes. OBJECTIVE: The purpose of this scoping review was to examine research related to CMC and their parents and transitions in care. The aim was 3-fold: (1) to examine the extent, range, and nature of research activity related to the impact of transitions on physical and mental health for CMC and their parents; (2) to summarize and disseminate research findings for key knowledge users; and (3) to identify research gaps in the existing literature to inform future studies. METHODS: Twenty-three sources were identified through database searches and five articles met the inclusion criteria of CMC (multi-organ involvement or technology-dependent) (or parents of CMC) transitioning from hospital to alternate levels of care where outcome measures were physical or mental health-related. RESULTS: Numerical analysis revealed substantial variation in methodological approaches and outcome measures. Content analysis revealed two themes for parents of CMC during this transition: (1) emotional distress, and (2) high expectations; and three themes for CMC: (1) improved health, (2) changes in emotion, and (3) disrupted relationships. CONCLUSION: The findings from this scoping review reveal for parents, transitions in care are fraught with emotional distress and high expectations; and for CMC there are improvements in quality of life and emotional health post- hospital to home transitions when collaborative models of care are available. This review serves as an early attempt to summarize the literature and demonstrate a need for further research.