Diaphragmatic hernia in a term newborn with congenital myotonic dystrophy: case report.

Background and aim Myotonic dystrophy (DM) is a genetic disorder determined by an amplified trinucleotide CTG repeat in the untranslated region of the DMPK gene on chromosome 19q13.3. The incidence of the congenital form is 1 in 47619 live births and the mortality in the neonatal period is up to 40%. Methods: We report a case of congenital DM (CDM, also designated Myotonic Dystrophy Type 1), presented with congenital right diaphragmatic hernia and cerebral bilateral ventricular dilatation, genetically diagnosed. Conclusions: Since no case of congenital diaphragmatic hernia associated with CDM is reported, the present case report could be considered of particular interest.

Safety use of high frequency oscillatory ventilation in transport of newborn infants affected by severe respiratory failure: preliminary data in central Tuscany.

BACKGROUND: Neonatal Emergency Transport Services play a fundamental role in neonatal care. Stabilization before transport of newborns suffering from severe respiratory failure is often a challenging problem and some critically ill infants may benefit from High Frequency Oscillatory Ventilation (HFOV) as rescue treatment. In these cases, transition to conventional ventilation for transport may cause a deterioration in clinical conditions. HFOV during neonatal transport has been only exceptionally used, due to technical difficulties. Since May 2018, a new neonatal transport unit is available at the Neonatal Protected Transport Service of the Meyer University Hospital in Florence, equipped with a pulmonary ventilator capable of delivering HFOV. Therefore, we conducted an analysis on patients transferred in HFOV to Neonatal Intensive Care Unit (NICU), in order to evaluate the safety and feasibility of its use during neonatal transport. METHODS: A retrospective analysis was performed reviewing medical records of the neonates transported by Meyer Children Hospital's Neonatal Transport Service between May 2018 and December 2020, and newborns treated with HFOV during ground neonatal transport were identified. Safety was assessed by the comparison of vital signs, hemogas-analysis values and pulmonary ventilator parameters, at the time of departure and upon arrival in NICU. The dose of inotropes, the main respiratory complications (air leak, dislocation or obstruction of the endotracheal tube, loss of chest vibrations) and the number of deaths and transfer failures were recorded. RESULTS: Out of the approximate 400 newborns transported during the analysis period, 9 were transported in HFOV. We did not find any statistically significant difference in vital parameters, hemogas-analytical values and pulmonary ventilator settings recorded before and after neonatal transport of the nine patients' parameters (p > 0,05). No patient required additional inotropes during transport. No transport-related deaths or significant complications occurred during transport. CONCLUSIONS: The interest of our report is in the possibility of using HFOV during inter-hospital neonatal transfer. As far as our experience has shown, HFOV appears to be safe for the transportation of newborns with severe respiratory failure. Nevertheless, further larger, prospective and multicentre studies are needed to better evaluate the safety and efficacy of HFOV during neonatal transport.

Feasibility of Early Intervention Through Home-Based and Parent-Delivered Infant Massage in Infants at High Risk for Cerebral Palsy.

Infant massage (IM) can be considered an early intervention program that leads to the environmental enrichment framework. The effectiveness of IM to promote neurodevelopment in preterm infants has been proved, but studies on infants with early brain damage are still lacking. The main aim of this study was to assess the feasibility, acceptability and usability of IM, carried out by parents at home, on infants at high risk for Cerebral Palsy. An IM daily diary and an ad hoc questionnaire, called Infant Massage Questionnaire Parent-Infant Experiences (IMQPE), were developed. IMQPE consisted of a total of 30 questions, divided into 5 areas. The parents were trained to carry out the IM with a home-based course, conducted by an expert therapist. The intensive IM program was set according to a defined daily length of at least 20 min, with a frequency of at least 5 days per week for a total of 8 weeks. Data collection consisted in the selection of the variables around the characteristics, both of the infants and the mothers, IM dosage and frequency, different body parts of the infants involved and IMQPE scores. Variable selection was carried out by minimizing the Bayesian Information Criteria (BIC) over all possible variable subsets. Nineteen high-risk infants, aged 4.83 ± 1.22 months, received IM at home for 8 weeks. The massage was given by the infants' mothers with a mean daily session dose of 27.79 ± 7.88 min and a total of 21.04 ± 8.49 h. 89.74% and 100% of mothers performed the IM for the minimum daily dosage and the frequency recommended, respectively. All the families filled in the IMQPE, with a Total mean score of 79.59% and of 82.22% in General Information on IM, 76.30% in Infant's intervention-related changes, 76.85% in IM Suitability, 79.07% in Infant's acceptance and 83.52% in Time required for the training. Different best predictors in mothers and in infants have been found. These data provide evidence of the feasibility of performing IM at home on infants at high risk for CP. Study registration: www.clinicaltrial.com (NCT03211533 and NCT03234959).

Concurrent and predictive validity of the infant motor profile in infants at risk of neurodevelopmental disorders.

BACKGROUND: Preterm infants and infants with perinatal brain injury show a higher incidence of neurodevelopmental disorders (NDD). The Infant Motor Profile (IMP) is a clinical assessment which evaluates the complexity of early motor behaviour. More data are needed to confirm its predictive ability and concurrent validity with other common and valid assessments such as the Alberta Infant Motor Scale (AIMS) and Prechtl's General Movement Assessment (GMA). The present study aims to evaluate the concurrent validity of the IMP with the AIMS, to assess its association with the GMA, to evaluate how the IMP reflects the severity of the brain injury and to compare the ability of the IMP and the AIMS to predict an abnormal outcome in 5-month-old infants at risk of NDD. METHODS: 86 infants at risk of NDD were retrospectively recruited among the participants of two clinical trials. Preterm infants with or without perinatal brain injury and term infants with brain injury were assessed at 3 months corrected age (CA) using the GMA and at 5 months CA using the IMP and the AIMS. The neurodevelopmental outcome was established at 18 months. RESULTS: Results confirm a solid concurrent validity between the IMP Total Score and the AIMS (Spearman's ρ 0.76; p < .001) and a significant association between IMP Total Score and the GMA. Unlike the AIMS, the IMP Total score accurately reflects the severity of neonatal brain injury (p < .001) and proves to be the strongest predictor of NDD (p < .001). The comparison of areas under receiver operating characteristic curves (AUC) confirms that the IMP Total score has the highest diagnostic accuracy at 5 months (AUC 0.92). For an optimal IMP Total Score cut-off value of 70, the assessment shows high sensitivity (93%) and specificity (81%) (PPV 84%; NPV 90%). CONCLUSIONS: Early motor behaviour assessed with the IMP is strongly associated with middle-term neurodevelopmental outcome. The present study confirms the concurrent validity of the IMP with the AIMS, its association with the GMA and its ability to reflect brain lesion load, hence contributing to the construct validity of the assessment. TRIAL REGISTRATION: NCT01990183 and NCT03234959 (clinicaltrials.gov).

Feasibility Analysis of CareToy-Revised Early Intervention in Infants at High Risk for Cerebral Palsy.

Infants with perinatal brain injury are at high risk for Cerebral Palsy (CP). Progresses in detection of early signs of brain injury and of CP allow early intervention (EI) programs for improving the outcome of these infants. CareToy system (CT), developed within a European project (Trial Registration: NCT01990183), allows providing, by means of tele-rehabilitation, a highly personalized, family-centered, home-based EI for young infants, remotely managed by clinicians. CareToy, already used with pre-terms without brain injury, has been adapted for high-risk infants in a project funded by the Italian Ministry of Health, and the CareToy-Revised (CareToy-R) has been realized (Trial registration: NCT03211533 and NCT03234959). Before assessing its efficacy, it was crucial to evaluate the acceptability, usability, and feasibility of CareToy-R EI. Nineteen high-risk infants with perinatal brain injury, aged 5.95 ± 2.13 months (range 3.12-10.78 months), carried out an 8-week training with CareToy-R at home, performing customized playful activities with their parents, tailored to their rehabilitative needs, remotely managed by clinicians. The feasibility of training and study procedures was assessed through criteria derived from literature; acceptability and usability have been analyzed from data about individual training and an ad hoc questionnaire. All CareToy-R trainings were planned by the clinical staff with a daily personalized use for each infant between 30 and 45 min (mean 34.37 min). The amount of executed training by the infants was very high (daily mean 30.30 min), with no differences related to infant age, sex, and gestational age. All the nine feasibility criteria were achieved, family compliance to the project was very good, data collection was completed and the CareToy-R system worked properly and easily for parents. The answers to the questionnaire had a total mean score of 84.49% and they ranged from a minimum of 81.05% (in "easy to use" area) to a maximum of 86.49% ("changes due to the training" area), with no differences related to nationality or familiarity with technology of the mothers. This study reports preliminary evidence to the feasibility of a home-based EI with CareToy-R system in infants at high risk for CP. Results of the RCT will provide data about the potential effectiveness of this approach.

Acute hypoxic encephalopathy in the full-term newborn: correlation between Magnetic Resonance Spectroscopy and neurological evaluation at short and long term.

PURPOSE: To determine which brain metabolite ratios have the strongest correlation with poor neurological outcome in newborns with perinatal asphyxia, whether the correlation is stronger with basal ganglia (BG) and whether a combined approach using Magnetic Resonance Imaging (MRI) and Magnetic Resonance Spectroscopy (MRS) can be used to evaluate the severity of neonatal asphyxia. MATERIALS AND METHODS: Twenty newborns with perinatal asphyxia were studied within the first week from the hypoxic insult with MRI and MRS. The MRS variables were compared with the assessment of general movements (GMs). The brain metabolite levels measured by MRS were N-acetylaspartate (NAA), creatine (Cr), choline (Cho) and lactate and the ratios NAA to Cr, Lac to Cr, Cho to Cr, mI to Cr. RESULTS: High lactate levels and low NAA levels were found in the newborns with the worst outcome; the levels in newborns with good outcome were within normal limits. CONCLUSIONS: Correlations between NAA/Cr and Lac/Cr ratios, general movements and outcome at 6 months are stronger in the basal ganglia regions than in the frontal border zone. The presence or absence of lactate may indicate the severity of the brain insult and the combination of MRS, MRI and evaluation of general movements may assist in localising and predicting a long-term brain injury.