Unique Features of Cardiovascular Involvement and Progression in Children with Marfan Syndrome Justify Dedicated Multidisciplinary Care.

Marfan syndrome (MIM: # 154700; MFS) is an autosomal dominant disease representing the most common form of heritable connective tissue disorder. The condition presents variable multiorgan expression, typically involving a triad of cardiovascular, eye, and skeletal manifestations. Other multisystemic features are often underdiagnosed. Moreover, the disease is characterized by age related penetrance. Diagnosis and management of MFS in the adult population are well-described in literature. Few studies are focused on MFS in the pediatric population, making the clinical approach (cardiac and multiorgan) to these cases challenging both in terms of diagnosis and serial follow-up. In this review, we provide an overview of MFS manifestations in children, with extensive revision of major organ involvement (cardiovascular ocular and skeletal). We attempt to shed light on minor aspects of MFS that can have a significant progressive impact on the health of affected children. MFS is an example of a syndrome where an early personalized approach to address a dynamic, genetically determined condition can make a difference in outcome. Applying an early multidisciplinary clinical approach to MFS cases can prevent acute and chronic complications, offer tailored management, and improve the quality of life of patients.

Maternal-Fetal Infections (Cytomegalovirus, Toxoplasma, Syphilis): Short-Term and Long-Term Neurodevelopmental Outcomes in Children Infected and Uninfected at Birth.

(1) Background: Infections in pregnancy can lead to miscarriage, premature birth, infections in newborns, and developmental disabilities in babies. Infected infants, symptomatic at birth, can have long-term sequelae, and asymptomatic babies are also at increased risk of developing long-term sensorineural outcomes. Targeted therapy of the pregnant mother can reduce fetal and neonatal harm. (2) Aim of the study: To explore the association between symptoms and time of onset of long-term sequelae in infected children born from mothers who contracted an infection during pregnancy, by a long-term multidisciplinary follow-up. (3) Methods: For up to 2−4 years, we evaluated cognitive, motor, audiological, visual, and language outcomes in infants with symptomatic and asymptomatic congenital infections and in uninfected infants. (4) Results: 186 infants born from women who acquired Cytomegalovirus infection (n = 103), Toxoplasma infection (n = 50), and Syphilis (n = 33) during pregnancy were observed. Among them, 119 infants acquired the infection in utero. Infected infants, symptomatic at birth, obtained lower scores on the Cognitive and Motor Scale on Bayley-III compared to asymptomatic and uninfected infants (p = 0.026; p = 0.049). Many severe or moderate sequelae rose up within the first year of life. At 24 months, we observed sequelae in 24.6% (14/57) of infected children classified as asymptomatic at birth, compared to 68.6% (24/35) of symptomatic ones (χ2 = 15.56; p < 0.001); (5) Conclusions: Infected babies symptomatic at birth have a worse prognosis than asymptomatic ones. Long-term sequelae may occur in infected children asymptomatic at birth after the first year of life. Multidisciplinary follow-up until 4−6 years of age should be performed in all infected children, regardless of the presence of symptoms at birth.

A functional and anatomical comparison between two passive transcutaneous bone conduction implants in children.

OBJECTIVE: To compare anatomical and functional outcomes of two passive transcutaneous bone conduction implant systems: Sophono™ and BAHA Attract™. MATERIALS AND METHODS: Twenty patients, affected by bilateral conductive hearing loss, underwent unilateral transcutaneous bone conduction implant surgery. Ten children received a Sophono™ implant (6 males, 4 females, mean age 11 years, mean unaided Pure Tone Average (PTA) 0.25-4kHz = 69.70dB HL) and 10 a BAHA Attract™ system (7 males, 3 females, mean age 19 years, mean unaided PTA0.25-4kHz = 66.40dB HL). The following outcomes were considered: incidence of local complications, hearing aid benefit, hearing aid gain and changes in quality of life (QOL), as measured by the Glasgow Children's Benefit Inventory (GCBI). RESULTS: One patient in the Sophono group experienced magnet-related skin decubitus, while two patients (one per group) had skin hyperemia in the area overlying the magnet. The mean BAHA-aided threshold was 23.70dB, whereas the mean Sophono-aided threshold was 31.60dB. The mean gain was significantly different for lower frequencies, the BAHA having better functional outcomes. All patients reported an improvement in their QOL. CONCLUSION: Given the lower thickness of the internal magnet, the Sophono™ system might be more suitable for younger children, whereas BAHA offered better functional results. Both systems can be considered valid and safe options for the functional rehabilitation of conductive hearing loss in children, provided that precautions are observed, such as a gradual use of the device and use of the least powerful magnets in the first months after the activation.

Bimodal Stimulation in Prelingually Deaf Children: Lessons from a Cross-sectional Survey.

OBJECTIVE: (1) To survey the use of bimodal stimulation by prelingually deaf children receiving unilateral cochlear implantation and (2) to investigate demographic and audiologic factors explaining the use of bimodal stimulation. STUDY DESIGN: Cross-sectional survey. SETTING: Tertiary care institution. SUBJECTS AND METHODS: The study included 44 unilaterally implanted prelingually deaf children from a single institution, with a minimum follow-up of 1 year. During routine follow-up visits, an examiner interviewed parents on their children's use of bimodal stimulation. At the same time, residual hearing and hearing aid gain in the contralateral ear were assessed. RESULTS: Approximately half of patients (52%) used bimodal stimulation. On average, bimodal users showed better mean unaided and aided thresholds than nonbimodal users (P < .001). A mean 250- to 500-Hz unaided threshold ≤90 dB HL in the contralateral, nonimplanted ear was associated with a higher probability of bimodal use (P = .008). Parental satisfaction with the contralateral hearing aid was inversely correlated with mean 125- to 500-Hz and 1000- to 4000-Hz unaided thresholds (P < .001) and mean 250- to 500-Hz and 1000- to 4000-Hz aided thresholds (P < .001). CONCLUSIONS: A mean 250- to 500-Hz unaided threshold ≤90 dB HL is associated with a higher probability of bimodal use by prelingually deaf children. Better residual hearing is associated with a higher degree of parental satisfaction with the contralateral hearing aid. This information could be useful to counsel parents of prelingually deaf children, when deciding between bimodal stimulation and simultaneous bilateral cochlear implantation.

Sophono in Pediatric Patients: The Experience of an Italian Tertiary Care Center.

OBJECTIVE: Since 2011, a transcutaneous bone-anchored auditory implant (Sophono) has been available for patients affected by bilateral, conductive hearing loss that cannot be corrected by surgery. To date, very few cases of device application in the pediatric population have been described. The aim of the present study is to report on complications, functional outcome, and health-related quality of life of the first pediatric cases in Italy. STUDY DESIGN: Case series with planned data collection. SETTING: Tertiary care pediatric center. SUBJECTS AND METHODS: Of 25 candidates with bilateral, conductive hearing loss screened between January 2012 and July 2013, 6 were included in the study (3 male and 3 female; median age, 9 years; age range, 5-17 years). Data concerning surgery, complications, functional outcome, and health-related quality of life were gathered prospectively. RESULTS: No major intraoperative complications occurred. Postoperative complications included 1 patient developing a skin ulceration below the external magnet and 1 patient reporting pain from using the device for more than 4 hours a day consecutively. Median free-field pure tone average (0.5-3 kHz) with the device was 32.5 dB HL, and median functional gain was 33 dB HL. Median Glasgow Children's Benefit Inventory score was +42. CONCLUSION: Sophono implants can be a valuable alternative to percutaneous implants in patients with bilateral, conductive hearing loss. To ensure the success of the treatment, several precautions should be taken, including a careful preoperative assessment of skull bone thickness and a close postoperative follow-up of the skin under the external processor, especially over the first months.

Safety and functional results of early cochlear implant switch-on in children.

OBJECTIVE: To assess the safety and the possible advantages of early (1-wk) cochlear implant switch-on in children and to compare impedance and ECAP threshold changes between subjects undergoing early switch-on and those undergoing traditional, 1-month switch-on. STUDY DESIGN: Prospective cohort study. SETTING: Tertiary care referral pediatric center. PATIENTS: Seventeen children receiving a unilateral or bilateral Nucleus Freedom cochlear implant were included, for a total of 20 ears. Ten ears were assigned to the early (1-wk) switch-on group and 10 to the control group (switch-on after 4 wks). INTERVENTIONS: Common ground impedance values and electrically evoked compound action potential thresholds were measured from intraoperation until 9 months postoperatively. Speech perception improvements over time were also assessed. MAIN OUTCOME MEASURES: Complication rate, impedance levels (kΩ), and electrically evoked compound action potentials (current levels) RESULTS: Early switch-on was well tolerated by patients and did not cause complications. Impedances dropped significantly after switch-on in both groups. They also seemed to achieve an earlier stability in the early switch-on patients, although the difference between groups was not significant. ECAP thresholds showed a similar, nonsignificant decreasing trend over time in both groups. Speech perception improvements did not differ between groups. CONCLUSION: This is the first study investigating the safety and the effects of an early cochlear implant switch-on in children. Results show that such a procedure is well tolerated by pediatric subjects and free from complications. Impedance measurements suggest that the earlier switched-on subjects benefit of lower and more stable impedances than subjects undergoing 1-month switch-on.

Pediatric BAHA in Italy: the "Bambino Gesù" Children's Hospital's experience.

The "Bambino Gesù" Children's Hospital offers the largest Italian cohort of children using a BAHA. This paper retrospectively reviews the center's experience with pediatric BAHA from its start in 1995 to December 2009, especially focusing on most debated issues, all the way from candidate selection to functional outcome and complications. A total of 47 children (21 females and 26 males) were implanted. From 1995 to 2000, a two-stage procedure was adopted in 100% (n = 22) cases. From 2001 onwards, one-stage surgery was chosen for 10 patients. Implant loss occurred in two patients (4.2%) after a two-stage surgery. Overall, the local complication rate was not different in the one-stage and in the two-stage group. The functional gain was significantly better with BAHA than conventional bone-conduction hearing aids and there was no significant difference in terms of functional outcome between the seven patients receiving a BAHA at an age younger than 5 years and the rest. The study results suggest that children presenting an indication to auditory rehabilitation with BAHA should be referred to specialized tertiary care centers. Only in such settings, a complete, multidisciplinary approach to associated comorbidities and syndromes is possible, and implantation of children at an age younger than five and one-stage surgery can be conducted safely and effectively.

Bone-anchored hearing aid (Baha) in patients with Treacher Collins syndrome: tips and pitfalls.

OBJECTIVES: Treacher Collins syndrome, also known as mandibulofacial dysostosis, is an autosomal dominant disorder of the cranio-facial morphogenesis affecting 1 of 50,000 live newborns. Most children with this disease present with bilateral, severe conductive hearing loss due to bilateral aural atresia. Auditory rehabilitation of these children can be effectively carried out with bone-anchored hearing aids (Baha). The aim of this retrospective study is to review the "Bambino Gesù" Children's Hospital's experience with Baha in Treacher Collins patients, highlighting the tips and pitfalls of Baha surgery in this particular population. METHODS: The clinical charts were reviewed of all children with a Treacher Collins syndrome diagnosis receiving a Baha in the "Bambino Gesù" Children's Hospital from January 1995 to January 2010. Data were collected concerning patients' anagraphics and medical history, comorbidities, surgical technique, complications and functional outcome. RESULTS: 23 Treacher Collins children were included. A two-stage surgery was adopted in 51% (n=12) cases, while a one-stage approach was chosen in 49% (n=11). 2 children underwent 1st stage surgery as they were younger than 5. There were neither cases of osseointegration failure, nor cases of traumatic implant loss. Overall, the local complication rate was not different in the one-stage and in the two-stage group. The functional gain was significantly better with the Baha than with the conventional bone-conduction hearing aids (p<0.0002). There was no difference in terms of functional outcome between the 7 patients receiving Baha at an age younger than 5 years and the rest (p=0.23). CONCLUSIONS: Baha can provide effective auditory rehabilitation for children with Treacher Collins syndrome, as long as it is performed in a tertiary care center where a multidisciplinary approach to the frequent comorbidities is possible. The main challenge of Baha surgery in this population is the poor or irregular thickness of the patient's calvarial bone, which often makes it necessary to drill additional holes, to place the fixture in contact with the dura or to use materials for bone augmentation.