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1.
Arch Pediatr ; 2024 May 27.
Article En | MEDLINE | ID: mdl-38806381

Children deserve to be treated with appropriate medicines based on robust assessments. Despite the introduction of new regulations, the availability of medicines for children is suboptimal because of the frequent lack of relevant clinical trials due to the difficulty of conducting such trials. Thus, the Transparency Committee (TC) of the French National Authority for Health, who oversees the assessment of medicinal products in France, set up a pediatric working group with two aims: (1) The first aim was to review all opinions on medicines for pediatric use. Out of 536 opinions delivered between 2020 and 2022, 181 (34 %) concerned medicines for pediatric use. Whereas oncology largely dominated the medicines for adults, medicines for infectious diseases, endocrinology/metabolism, neurology, and hematology mostly prevailed for children. (2) The second aim was to clarify the evaluation criteria assessed by the TC, namely, the clinical benefit (CB), the clinical added value (CAV), and the public health impact (PHI) for pediatric medicinal products. An important CB was given to 113 out of 161 (71 %) opinions on medicines for pediatric use when it concerned pathologies with a severe prognosis. The quality of the demonstration (e.g., double-blind randomized trial vs. placebo or another active medicine) played a major role in the CB level. Clinical pediatric studies were also consistently associated with higher CAV levels: levels I (major) to III (moderate) in 26 out of 42 (62 %) opinions, level IV (minor) and level V (no therapeutic progress) in 43 out of 84 (51 %) and 30 out of 43 (70 %) opinions granting a sufficient CB, respectively. Conversely, 22 out of 30 (73 %) dossiers based only on literature reviews were given a level V. The main criteria leading to the qualification of a medicine for pediatric use as providing a PHI included a significant change in the morbidity and mortality of the disease and an improvement in the care pathway. Assessments were mostly aligned on the adults in the case of subsequent extensions of indications to children. Lastly, new measures were taken aimed at shortening median delays in the assessment process in order to reduce off-label use of medicines in France.

3.
Eur Psychiatry ; 66(1): e86, 2023 10 20.
Article En | MEDLINE | ID: mdl-37860880

BACKGROUND: Perinatal mental health disorders (PMHD) remain often undetected, undiagnosed, and untreated with variable access to perinatal mental health care (PMHC). To guide the design of optimal PMHC (i.e., coproduced with persons with lived experience [PLEs]), this qualitative participatory study explored the experiences, views, and expectations of PLEs, obstetric providers (OP), childcare health providers (CHPs), and mental health providers (MHPs) on PMHC and the care of perinatal depression. METHODS: We conducted nine focus groups and 24 individual interviews between December 2020 and May 2022 for a total number of 84 participants (24 PLEs; 30 OPs; 11 CHPs; and 19 MHPs). The PLEs group included women with serious mental illness (SMI) or autistic women who had contact with perinatal health services. We recruited PLEs through social media and a center for psychiatric rehabilitation, and health providers (HPs) through perinatal health networks. We used the inductive six-step process by Braun and Clarke for the thematic analysis. RESULTS: We found some degree of difference in the identified priorities between PLEs (e.g., personal recovery, person-centered care) and HPs (e.g., common culture, communication between providers, and risk management). Personal recovery in PMHD corresponded to the CHIME framework, that is, connectedness, hope, identity, meaning, and empowerment. Recovery-supporting relations and peer support contributed to personal recovery. Other factors included changes in the socio-cultural conception of the peripartum, challenging stigma (e.g., integrating PMH into standard perinatal healthcare), and service integration. DISCUSSION: This analysis generated novel insights into how to improve PMHC for all users including those with SMI or autism.


Mental Disorders , Pregnancy , Female , Humans , Mental Disorders/diagnosis , Mental Disorders/therapy , Qualitative Research , Health Services Accessibility , Social Stigma
4.
Soins Pediatr Pueric ; 44(332): 41-46, 2023.
Article Fr | MEDLINE | ID: mdl-37328219

Between 30 and 50 % of very premature babies have disorders that can affect their schooling, training and future life. Their origin is often multifactorial, and environmental, socioeconomic and family factors can influence the subsequent development of these children. Among these factors, the neonatal environment, which is generally very noisy and bright, as well as the numerous tactile solicitations, have been blamed. In 1978, the kangaroo method transformed this reality by improving the parent-baby relationship and reducing neonatal mortality. Since then, a trend has developed around developmental care with the Neonatal Individualized Developmental Care Assessment Program and the approach of André Bullinger.


Neonatology , Humans , Infant, Newborn , Infant, Premature , Parents , Intensive Care Units, Neonatal
6.
BMC Pregnancy Childbirth ; 23(1): 241, 2023 Apr 12.
Article En | MEDLINE | ID: mdl-37046229

BACKGROUND: While the World Health Organisation (WHO) warned about mistreatment, disrespect and/or abuse during childbirth as early as 2014. This same year a social media movement with #payetonuterus brought to light the problematic of obstetrical violence in French speaking countries, and more specifically on issues of disrespect. The experience of care is an integral part of the quality of care, and perception on inadequate support during labour and loss of control in labour are some of the most frequently reported risk factors for childbirth-related post-traumatic stress disorder (CB-PTSD). Therefore, it seems crucial to study the associations between disrespect during childbirth and the mental well-being of mothers. METHODS: We performed a multicentered cohort study using auto-questionnaires within a French perinatal network. The main outcome was women's report of disrespect during childbirth measured by the Behavior of the Mother's Caregivers - Satisfaction Questionnaire (BMC-SQ) 3 days and 2 months after childbirth. CB-PTSD and Postpartum Depression (PPD) were assessed 2 months after childbirth using respectively the Post-Traumatic Checklist Scale (PCLS) and the Edinburgh Postnatal Depression Scale (EPDS). RESULTS: This study followed 123 mothers from childbirth to 2 months postpartum. Among them, 8.13% (n = 10/123) reported disrespect during childbirth at 3 days after childbirth. With retrospect, 10.56% (n = 13/123) reported disrespect during childbirth at 2 months postpartum, i.e. an increase of 31%. Some 10.56% (n = 13/123) of mothers suffered from postpartum depression, and 4.06% (n = 5/123) were considered to have CB-PTSD at 2 months after childbirth. Reported disrespect during childbirth 3 days after birth was significantly associated with higher CB-PTSD 2 months after birth (R2 = 0.11, F(1,117) = 15.14, p < 0.001 and ß = 9.11, p = 0.006), PPD at 2 months after childbirth was positively associated to reported disrespect in the birth room, 3 days after birth (R2 = 0.04, F(1, 117) = 6.28, p = 0.01 and ß = 3.36, p = 0.096). Meanwhile, PPD and CB-PTSD were significantly associated 2 months after childbirth (R2 = 0.41, F=(1,117) = 82.39, p < 0.01 and ß = 11.41, p < 0.001). CONCLUSIONS: Disrespect during childbirth was associated with poorer mental health during the postpartum period. Given the high prevalence of mental health problems and the increased susceptibility to depression during the postpartum period, these correlational results highlight the importance of gaining a deeper awareness of healthcare professionals about behaviours or attitudes which might be experienced as disrespectful during childbirth.


Depression, Postpartum , Stress Disorders, Post-Traumatic , Pregnancy , Female , Humans , Cohort Studies , Depression, Postpartum/epidemiology , Depression, Postpartum/etiology , Depression, Postpartum/psychology , Mental Health , Professional-Patient Relations , Parturition/psychology , Postpartum Period/psychology , Surveys and Questionnaires , Stress Disorders, Post-Traumatic/epidemiology , Stress Disorders, Post-Traumatic/etiology
7.
Front Psychiatry ; 13: 938482, 2022.
Article En | MEDLINE | ID: mdl-36276306

Maternal sensitivity (MS), the ability to perceive and synchronously respond to the social signals (SSs), is affected by prematurity. The development of early supportive psychotherapy to foster MS, before discharge of the infant from the neonatal intensive care unit (NICU) is a major challenge in the prevention of subsequent developmental and mental disorders in the child. There are currently no reliable methods for evaluating MS to social interactions with very to moderate preterm infants. We investigated the reliability of a newly developed procedure for assessing MS in interactions between the mother and her 34- to 36-week postmenstrual age (PMA) preterm infant: the Preterm Infant Coding System for Maternal Sensitivity (PRICOSMAS). Method: This study encompassed three steps: testing of the capacity to videorecord SSs in very to moderate preterm infants, selection, by an expert committee, of the recordable and relevant SSs, and investigation of the internal consistency and interrater reliability. The synchronicity between infant and mother's SSs was determined on a 1 s period basis, using ELAN software. Preterm infants born after 25-weeks gestational age (GA) were included while being between 34- and 36-weeks PMA. A perinatal risk inventory score > 10 for the infant precluded from inclusion. Interrater reliabilities were assessed independently by two raters blind to the clinical situation of the mother and infant. Results: The resulting PRICOSMAS encompassed two four-item SS sections, one covering the preterm infant's SSs and the other, the mother's SSs. Reliability was assessed on a sample of 26 videorecorded observations for 13 mother-preterm infant dyads. Infants' mean age at birth was 30.4 ± 3.1-weeks GA (range: 26.4-35) and PMA at the time of the test was 34.7-weeks (±0.8). Internal consistency ranged from 0.81 to 0.89. Interrater reliability ranged from substantial to almost perfect (0.73-0.88). Conclusion: This study shows that the infants' SSs and MS can be reliably scored in preterm infants as young as 34- to 36-weeks PMA. Our findings suggest that the PRICOSMAS is sufficiently reliable for use, including in NICU, by healthcare professionals or researchers for coding early parent-infant interactions with 34- to 36-week PMA preterm infants.

8.
Healthcare (Basel) ; 10(10)2022 Sep 23.
Article En | MEDLINE | ID: mdl-36292301

The objective of this study was to compare the mental well-being of French women who were and were not pregnant during the first COVID-19 pandemic lockdown. We performed a nationwide online quantitative survey including all women between 18 and 45 years of age during the second and third weeks of global lockdown (25 March-7 April 2020). The main outcome measure was mental well-being measured by the Warwick-Edinburgh Mental Well-Being Scale (WEMWBS). This study analysed 275 responses from pregnant women and compared them with those from a propensity score-matched sample of 825 non-pregnant women. In this French sample, the median WEMWBS score was 49.0 and did not differ by pregnancy status. Women living in urban areas reported better well-being, while those with sleep disorders or who spent more than an hour a day watching the news reported poorer well-being. During the first lockdown in France, women had relatively low mental well-being scores, with no significant difference between pregnant and non-pregnant women. More than ever, health-care workers need to find a way to maintain their support for women's well-being. Minor daily annoyances of pregnancy, such as insomnia, should not be trivialised because they are a potential sign of poor well-being.

9.
BMC Pregnancy Childbirth ; 22(1): 732, 2022 Sep 26.
Article En | MEDLINE | ID: mdl-36163044

BACKGROUND: To compare the rate of postpartum depression (PPD) during the first COVID-19 lockdown with the rate observed prior to the pandemic, and to examine factors associated with PPD. METHODS: This was a prospective study. Women who gave birth during the first COVID-19 lockdown (spring 2020) were offered call-interviews at 10 days and 6-8 weeks postpartum to assess PPD using the Edinburgh Postnatal Depression Scale (EPDS). Post-traumatic symptoms (Perinatal Post-traumatic Stress Disorder Questionnaire, PPQ), couple adjustment, and interaction and mother-to-infant bonding were also evaluated. The observed PPD rate was compared to the one reported before the pandemic. Factors associated with an increased risk of PPD were studied. The main outcome measures were comparison of the observed PPD rate (EPDS score > 12) to pre-pandemic rate. RESULTS: Of the 164 women included, 27 (16.5% [95%CI: 11.14-23.04]) presented an EPDS score > 12 either at 10 days or 6-8 weeks postpartum. This rate was similar to the one of 15% reported prior to the pandemic (p = 0.6). Combined EPDS> 12 or PPQ > 6 scores were observed in 20.7% of the mothers [95%CI: 14.8-0.28]. Maternal hypertension/preeclampsia (p = 0.007), emergency cesarean section (p = 0.03), and neonatal complications (p = 0.008) were significantly associated with an EPDS> 12 both in univariate and multivariate analysis (OR = 10 [95%CI: 1.5-68.7], OR = 4.09[95%CI: 1.2-14], OR = 4.02[95%CI: 1.4-11.6], respectively). CONCLUSIONS: The rate of major PPD in our population did not increase during the first lockdown period. However, 20.7% of the women presented with post-traumatic/depressive symptoms. TRIAL REGISTRATION: NCT04366817.


COVID-19 , Communicable Disease Control , Depression, Postpartum , COVID-19/epidemiology , COVID-19/prevention & control , COVID-19/psychology , Depression, Postpartum/psychology , Female , Humans , Infant, Newborn , Interpersonal Relations , Male , Mother-Child Relations , Pregnancy , Prospective Studies , Psychiatric Status Rating Scales , Risk Factors
10.
Front Pediatr ; 10: 860391, 2022.
Article En | MEDLINE | ID: mdl-36172394

The benefits of book-reading interventions on language development in full-term infants have been well investigated. Because children born preterm face a greater risk of cognitive, language and emotional impairments, this narrative review examines the theoretical evidence, empirical findings, and practical challenges for introducing such intervention to this population. The effect of shared book interventions on typically developing infants is mediated by three components: a linguistic aspect (i.e., exposure to enriched linguistic input), an interactive aspect (i.e., eliciting more synchronous and contingent communication), and a parental aspect (i.e., reducing parental stress and increasing sense of control). Parental shared book reading in a neonatal intensive care unit (NICU) was found to be feasible and well accepted. It provides concrete support for positive parenting in a highly stressful context. Preliminary evidence supports a positive effect of shared reading sessions in physiological parameters of preterm infants in NICU. One study showed that parental shared book reading in an NICU is associated with lower decline in language development during the first 24 months compared to a historical control group. Findings from a community-based birth cohort confirm the positive effect of this intervention on cognitive development with a 2-year-follow up. More structured clinical trials are now needed to confirm these preliminary findings. Questions remain about possible moderators of these interventions, in particular cultural features.

11.
Front Pediatr ; 10: 804802, 2022.
Article En | MEDLINE | ID: mdl-35874558

Background: Social withdrawal is a risk indicator for infant development with both organic and non-organic causes. Cleft lip and palate (CLP) impose a higher risk of physical and emotional distress in infants and alters parent-infant relationships. The ADBB scale is a screening tool to identify social withdrawal as a sign of distress in infants. The aim of this study is to evaluate the prevalence of social withdrawal behavior in infants with CLP using the full 8-item ADBB scale and the modified 5-item ADBB scale, and to examine the feasibility of both scales. Methods: 145 infants with Cleft Lip and Palate were enrolled and video recorded during a pediatric consultation. All infants were scored by two expert raters trained in ADBB scale, and subsequently scored with the m-ADBB by an independent expert. We measured the interrater agreement for the full ADBB scale and psychometric properties of both scales. Results: The full ADBB scale identified 15.9% of infants as having social withdrawal behavior (score above cutoff ≥5). Among the infants evaluated with the m-ADBB scale, 44.9% had a score above the suggested cutoff (≥2). For both scales, the item "vocalization" showed the higher scores. We found a good internal consistency for the full ADBB (Cronbach's alpha = 0.82) and an acceptable internal consistency for the modified ADBB (Cronbach's alpha = 0.71). The interrater agreement for the full ADBB scale was excellent (kappa = 0.837). The Spearman correlation coefficient between the total scores of the two versions was 0.88 (P < 0.001). Conclusion: Our results indicate a relatively high prevalence of social withdrawal in infants with Cleft Lip and Palate, especially evaluated with the modified 5-item ADBB scale. We found that the full ADBB and the modified ADBB scales are feasible to use as screening tools of social withdrawal in this population. Clinical Trial Registration: This trial is registered on ClinicalTrials.gov, identifier: NCT00993993. The data is the property of Assistance Publique, Hôpitaux de Paris.

12.
Front Psychol ; 13: 809309, 2022.
Article En | MEDLINE | ID: mdl-35795430

As a result of evolution, human babies are born with outstanding abilities for human communication and cooperation. The other side of the coin is their great sensitivity to any clear and durable violation in their relationship with caregivers. Infant sustained social withdrawal behavior (ISSWB) was first described in infants who had been separated from their caregivers, as in Spitz's description of "hospitalism" and "anaclitic depression." Later, ISSWB was pointed to as a major clinical psychological feature in failure-to-thrive infants. Fraiberg also described freezing behavior as one of the earliest modes of infant defense in the face of adverse situations threatening the infant's ability to synchronize with caregivers. We hypothesize that ISSWB behaviors are associated with poor vagal brake functioning and that an impaired social engagement system is induced by an impoverished and/or dangerous environment. Recent research using animal models highlight the neurobiology and the genetics of the social Approach/Withdrawal Behavior in infants. The present paper is therefore a plea for social withdrawal behavior to be attributed a more important role as a major psychological defensive mechanism in infancy, and for research into early development and early intervention to make more practical and theoretical use of this concept, thus decreasing the challenge of translation in social neurosciences. This work presents several situations involving developmental hazards in which assessment of ISSWB by means of the Alarm Distress Baby Scale (ADBB) has proven useful, i.e., malnutrition, effects of major maternal depression and or traumatization, assessing social withdrawal in infants with an chronic organic illness (congenital heart disease, Prader-Willi syndrome, cleft lip and/or palate Prader-Willy syndrome, Fetal alcohol syndrome) or assessing ISSWB in out of home placed infants during parental visitation. Relationships between ISSWB and other biophysiological behavioral systems are discussed, particularly links with attachment processes and Porges's polyvagal theory.

13.
Soins Pediatr Pueric ; 43(325): 44-48, 2022.
Article Fr | MEDLINE | ID: mdl-35550743

The literature concerning the neurocognitive evolution of children with transfusion-transfusion syndrome (TTS) is poor beyond the first year of life. It is therefore of particular interest to trace the developmental and management pathway, from the age of 18 months to 11 years, of a boy who presented with TTS in utero. This example illustrates the benefit of early multidisciplinary support and the diagnostic issues raised with the development of the child.


Fetofetal Transfusion , Female , Humans , Infant, Newborn , Male , Pregnancy
14.
Front Psychol ; 12: 646170, 2021.
Article En | MEDLINE | ID: mdl-33790843

Introduction: Motherese, or emotional infant directed speech (IDS), is the specific form of speech used by parents to address their infants. The prosody of IDS has affective properties, expresses caregiver involvement, is a marker of caregiver-infant interaction quality. IDS prosodic characteristics can be detected with automatic analysis. We aimed to explore whether pregnant women "speak" to their unborn baby, whether they use motherese while speaking and whether anxio-depressive or obstetrical status impacts speaking to the fetus. Participants and Methods: We conducted an observational study of pregnant women with gestational ages from 26 to 38 weeks. Women were recruited in a university hospital department of obstetrics. Thirty-five women agreed to participate in the study, and 26 audio records were exploitable. We collected obstetrical and sociodemographic data, pregnancy outcomes, anxiety and depressive status using the Covy and Raskin Scales, and life events using the Sensations During Pregnancy and Life Event Questionnaire. Each participant was left alone with an audio recorder with a recommendation to feel free to speak to her fetus as she would have done at home. The recording was stopped after 3 min. Audio recordings were analyzed by two methods: psycholinguist experts' annotation and computational objective automatic analyses. Results: Most mothers (89%) reported speaking to their fetuses. We found a correlation between maternal first perceptions of fetal movements and the start of mother's speaking to fetus. Motherese prosody was detected with both annotation and automatic analysis with a significant correlation between the two methods. In this exploratory study, motherese use was not associated with maternal anxiodepressive or obstetrical status. However, the more future mothers were depressed, the less they spoke with their fetuses during the recording. Conclusion: Fetal directed speech (FDS) can be detected during pregnancy, and it contains a period of prosody that shares the same characteristics of motherese that can be described as prenatal motherese or emotional fetal-directed speech (e-FDS). This means that pregnant women start using motherese much earlier than expected. FDS seems to be correlated with maternal first perceptions of fetal movements and depression scores. However, more research is needed to confirm these exploratory results.

15.
Orphanet J Rare Dis ; 16(1): 176, 2021 04 13.
Article En | MEDLINE | ID: mdl-33849607

BACKGROUND: Rare diseases may result in motor impairment, which in turn may affect parenthood. Our purpose was to evaluate perinatal outcomes, parenting needs, mother-infant interactions and infant development in a set of volunteer women with motor impairment due to a rare disease. In a parenting support institution, we recruited a consecutive series of 22 volunteer pregnant women or young mothers, recorded perinatal outcomes, and followed mother-infant interaction and relationship and infant development up to 14 months postpartum. Cases with intellectual or psychic disability were not included. RESULTS: There were 11 genetic diseases (2 Spinal Muscular Atrophy, 1 Charcot-Marie-Tooth, 1 autosomal dominants myopathy, 1 mitochondrial disease, 2 Elhers-Danlos, 1 Friedreich ataxia, 1 spinocerebellar ataxia, 1 tetrahydrobiopterine deficiency,1 Ectrodactyly), and 11 rare non-genetic conditions (2 spine tumors, 2 strokes, 1 juvenile chronic arthritis, 3 birth injuries, 1 inflammatory myopathy, 1 congenital amputation, and 1 traumatic amputation). These resulted in 10 impairments of four limbs, 4 impairments of both lower limbs, 7 unilateral impairments, and one distal tremor. Social deprivation Epices score, Cutrona social support scale, Edinburg Postnatal Depression scale, and Spielberger State/Trait Anxiety Inventory were unremarkable. Perinatal outcome: 4 gestational diabetes, 1 pre-eclampsia, 9 caesareans, 6 assisted and 7 spontaneous vaginal deliveries, 20 term live-births and 2 premature deliveries (35-36 weeks). Twelve women declared they were self-sufficient for daily activities; six declared they were self-sufficient to provide basic care to their baby. Distribution of the Brunet-Lezine child development score was normal. The parent-infant relationship global assessment scale (PIR-GAS) was well adapted in 2 cases, adapted in 8, perturbed in 7, significantly perturbed in 2, and distressed in 3 (mean 71.8; 95% CI 49.6-93.9). This was unrelated to any somatic or emotional characteristics of the participants. Coding interactive behavior revealed that infant engagement was lower and infant avoidance greater than in controls (p < 0.05). CONCLUSION: Infant development was normal, but mother-infant interactions were altered in half of the participants independently from the degree of motor impairment, underscoring the need for parenting support, even for parents who are self-sufficient in daily activities.


Depression, Postpartum , Disabled Persons , Motor Disorders , Child , Female , Humans , Infant , Mother-Child Relations , Parenting , Pregnancy
16.
Soins Psychiatr ; 39(319): 33-39, 2018.
Article Fr | MEDLINE | ID: mdl-30473105

Severe forms of autism may be spotted by families in the first year of life, but are still rarely treated before the age of 3. Screening and early treatment are recommended to improve the children's functional prognosis. However, there is still little knowledge among perinatal and early childhood professionals of the symptomatology of autistic disorders. Several points are sensitive: during the first year the symptoms of children at risk are non-specific apart from a lack of desire to form relationships; and the early treatment probably modifies the clinical picture of young patients. Screening tools are rare but are starting to be developed.


Autism Spectrum Disorder/diagnosis , Autism Spectrum Disorder/therapy , Perinatal Care , Female , Humans , Infant, Newborn , Mass Screening , Pregnancy
17.
NPJ Genom Med ; 3: 24, 2018.
Article En | MEDLINE | ID: mdl-30155272

Microduplication of chromosome 1q21.1 is observed in ~0.03% of adults. It has a highly variable, incompletely penetrant phenotype that can include intellectual disability, global developmental delay, specific learning disabilities, autism, schizophrenia, heart anomalies and dysmorphic features. We evaluated a 10-year-old-male with a 1q21.1 duplication by CGH microarray. He presented with major attention deficits, phonological dysphasia, poor fine motor skills, dysmorphia and mild autistic features, but not the typical macrocephaly. Neuropsychiatric evaluation demonstrated a novel phenotype: an unusually large discrepancy between non-verbal capacities (borderline-impaired WISC-IV index scores of 70 for Working Memory and 68 for Processing Speed) vs. strong verbal skills - scores of 126 for Verbal Comprehension (superior) and 111 for Perceptual Reasoning (normal). HYDIN2 has been hypothesized to underlie macrocephaly and perhaps cognitive deficits in this syndrome, but assessment of HYDIN2 copy number by microarray is difficult because of extensive segmental duplications. We performed whole-genome sequencing which supported HYDIN2 duplication (chr1:146,370,001-148,590,000, 2.22 Mb, hg38). To evaluate copy number more rigorously we developed droplet digital PCR assays of HYDIN2 (targeting unique 1 kb and 6 kb insertions) and its paralog HYDIN (targeting a unique 154 bp segment outside the HYDIN2 overlap). In an independent cohort, ddPCR was concordant with previous microarray data. Duplication of HYDIN2 was confirmed in the patient by ddPCR. This case demonstrates that a large discrepancy of verbal and non-verbal abilities can occur in 1q21.1 duplication syndrome, but it remains unclear whether this has a specific genomic basis. These ddPCR assays may be useful for future research on HYDIN2 copy number.

18.
J Physiol Paris ; 110(4 Pt B): 427-433, 2016 11.
Article En | MEDLINE | ID: mdl-28823614

BACKGROUND: Infant-mother interaction is a set of bidirectional processes, where the baby is not only affected by the influences of his caregiver, but is also at the origin of considerable modifications. The recent discovery of biological correlates of synchrony during interaction validated its crucial value during child development. Here, we focus on the paradigmatic case of Prader-Willi Syndrome (PWS) where early endocrinal dysfunction is associated with severe hypotonia and early feeding disorder. As a consequence, parent-infant interaction is impaired. In a recent study (Tauber et al., 2017), OXT intranasal infusion was able to partially reverse the feeding phenotype, infant's behavior and brain connectivity. This article details the interaction profile found during feeding in these dyads and their improvement after OXT treatment. METHODS: Eighteen infants (≤6months) with PWS were recruited and hospitalized 9days in a French reference center for PWS where they were treated with a short course of intranasal OXT. Social withdrawal behavior and mother-infant interaction were assessed on videos of feeding before and after treatment using the Alarm Distress Baby (ADBB) Scale and the Coding Interactive Behavior (CIB) Scale. Raters were blind to treatment status. RESULTS: At baseline, infants with PWS showed hypotonia, low expressiveness of affects, fatigability and poor involvement in the relationship with severe withdrawal. Parents tended to adapt to their child difficulties, but the interaction was perturbed, tense, restricted and frequently intrusive with a forcing component during the feeding situation. After OXT treatment, infants were more alert, less fatigable, more expressive, and had less social withdrawal. They initiated mutual activities and were more engaged in relationships through gaze, behavior, and vocalizations. They had a better global tonicity with better handling. These modifications helped the parents to be more sensitive and the synchrony of the dyad was in a positive transactional spiral. CONCLUSION: Dys-synchrony can be induced by children's pathology as well as parental pathology with emotional and developmental impact in the both cases. The PWS paradigm shows us the necessity to sustain early parents-child relationship to avoid establishment of a negative transactional pattern of interaction that can impact child's development.


Child Development/drug effects , Mother-Child Relations/psychology , Oxytocin/administration & dosage , Perinatal Care/methods , Prader-Willi Syndrome/drug therapy , Prader-Willi Syndrome/psychology , Administration, Intranasal , Child Development/physiology , Female , Hospitalization/trends , Humans , Infant , Infant, Newborn , Male , Oxytocics/administration & dosage , Prader-Willi Syndrome/diagnosis
19.
PLoS One ; 7(1): e30935, 2012.
Article En | MEDLINE | ID: mdl-22292077

BACKGROUND: In up to 5% of pregnancies, ultrasound screening detects a "soft marker" (SM) that places the foetus at risk for a severe abnormality. In most cases, prenatal diagnostic work-up rules out a severe defect. We aimed to study the effects of false positive SM on maternal emotional status, maternal representations of the infant, and mother-infant interaction. METHODOLOGY AND PRINCIPAL FINDINGS: Utilizing an extreme-case prospective case control design, we selected from a group of 244 women undergoing ultrasound, 19 pregnant women whose foetus had a positive SM screening and a reassuring diagnostic work up, and 19 controls without SM matched for age and education. In the third trimester of pregnancy, within one week after delivery, and 2 months postpartum, we assessed anxiety, depression, and maternal representations. Mother-infant interactions were videotaped during feeding within one week after delivery and again at 2 months postpartum and coded blindly using the Coding Interactive Behavior (CIB) scales. Anxiety and depression scores were significantly higher at all assessment points in the SM group. Maternal representations were also different between SM and control groups at all study time. Perturbations to early mother-infant interactions were observed in the SM group. These dyads showed greater dysregulation, lower maternal sensitivity, higher maternal intrusive behaviour and higher infant avoidance. Multivariate analysis showed that maternal representation and depression at third trimester predicted mother-infant interaction. CONCLUSION: False positive ultrasound screenings for SM are not benign and negatively affect the developing maternal-infant attachment. Medical efforts should be directed to minimize as much as possible such false diagnoses, and to limit their psychological adverse consequences.


Fetal Diseases/diagnostic imaging , Mother-Child Relations , Mothers/psychology , Ultrasonography, Prenatal , Adult , Algorithms , Biomarkers/analysis , Case-Control Studies , Emotions/physiology , False Positive Reactions , Female , Fetal Diseases/psychology , Humans , Infant, Newborn , Longitudinal Studies , Maternal Behavior/psychology , Pregnancy , Ultrasonography, Prenatal/adverse effects , Ultrasonography, Prenatal/standards
20.
Infant Ment Health J ; 31(2): 242-253, 2010 Mar.
Article En | MEDLINE | ID: mdl-28543329

Infants ages 0 to 1 year consecutively referred for psychiatric treatment during the year 2005 were followed, and variables associated with diagnosis and short-term outcome were assessed. Infants were evaluated using the Psychiatric Infant Navigator Chart and Evaluation that includes nosological diagnoses [Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood, (DC 0-3), Zero to Three, 1994] as well as risk and protective factors, treatment procedure, and outcomes. Seventy-six percent of the infants had an Axis I diagnosis, with anxiety disorders and a mixed disorder of emotional expressiveness being the most frequent. Twenty-five percent had an Axis II diagnosis. Multiple correspondence analyses showed that two dimensions corresponding grossly to DC 0-3 Axes I and II emerged. They emphasized three clinical profiles characterized by (a) good infant functioning, parent's awareness of their own difficulties, and a good outcome; (b) moderate child symptoms, overinvolved relating, and a good/intermediate outcome; (c) severe child symptoms, underinvolved relating, and a less favorable short-term outcome, signaling the risk for developmental disorders. Among the associated risk factors were cumulative parental stress, maternal psychopathology, and family dysfunction. Clinical implications of these findings indicated that infants under the age of 1 year who are referred for mental health evaluation and intervention are a heterogeneous group in terms of both severity and prognosis. Clinicians should differentiate subgroups of young children to detect those infants at risk for persistent psychopathology.

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