Purpose A total of 43 Italian children, aged between 6 and 16 years, diagnosed with spina bifida, myelomeningocele, and shunted hydrocephalus have been described clinically and completed a neuropsychological battery in order to evaluate their cognitive, personality, and behavior profile. Methods Enrolled children underwent cognitive assessment by means of the Weschler WISC-IV cognitive test and assessment of the attention sustained through the LEITER test. In addition, parents were asked, in order to obtain a personality and behavior profile of the children, to fill in a “CBCL 6-18 years” questionnaire and to fill in a Barthel Index questionnaire. Results Processing Speed Index of the WISC-IV QI scale was statistically significant ( p = 0.027), with the highest value presented by autonomous patients (95.8 ± 12.8) and the lowest by patients using a wheelchair (75.5 ± 19). WISC-IV QI mean value is 98 (±15.7) for lipoma patients and 78.7 (±17.6) for LMMC and MMC patients ( p = 0.001). In more detail, Perceptual Reasoning ( p < 0.0005), Working Memory ( p = 0.01), and Processing Speed Index ( p = 0.001) highlighted a significant difference between the groups. The attention sustained subscale of the LEITER presented a mean of 6.9 (±3.1) for lipoma patients and a men value of 4.6 (±3.1) for LMMC and MMC patients ( p = 0.024). Patients with hydrocephalus had statistically significant worse cognition and autonomy (Barthel Index) score ( p < 0.001) compared with those without hydrocephalus, and normal scores regarding attention and depression scales. Conclusion These results can be useful in planning dedicated therapeutic protocols such as suitable rehabilitation treatments, speech therapy, psychomotor skills, and cognitive enhancement and to develop prevention protocols particularly tailored for children with hydrocephalus who appear to have the more deficient skills.

Objectives To report on the prenatal ultrasonographic diagnosis of spina bifida (SB) and its natural history, treatment and long-term outcome in a large tertiary referral center. Methods All cases of SB diagnosed between February 1980 and December 2015 in the Obstetric Prenatal Diagnosis Day Unit of the Obstetrics and Gynecology Department at the Catholic University of the Sacred Heart, Rome, were reviewed. All infants with an open defect were delivered by elective Cesarean section and underwent early repair of the spinal defect. A ventriculoperitoneal (VP) shunt and/ or third ventriculostomy was performed when needed. Complete postnatal follow-up was carried out by our multidisciplinary team in the majority of cases. The cohort was analyzed in two groups: Group 1 included patients referred between February 1980 and December 1999; Group 2 included patients referred between January 2000 and December 2015. Results There was a total of 222 cases of SB with a prenatal diagnosis rate of 94.6% (n=210), with the majority of defects being meningomyeloceles (n=142 (64.0%)), affecting the lumbosacral level (n=110 (49.5%)) and being =2 cmin size (n=163/ 195 (83.6%)). There were 174 (78.4%) live births, with more terminations in Group 2 (26.1%) than in Group 1 (10.8%; P=0.003). Postnatal surgical repair was conducted in 157 cases (99.4% of eligible cases), with death of an infant who was operated on occurring more often in Group 1 (14.1%) than in Group 2 (4.2%; P=0.03). VP shunt placement was required in 60.3% of infants operated on after January 2000. Long-term follow-up was available for 136 children (111 with open defects and 25 with closed defects). Infants born since 2000 with an open defect had normal ambulation or a mild defect in 50% of cases and normal or mild deficit of sphincter function in 37.8% of cases. An intelligence quotient of =70 was observed in the majority of children (81.4%; 35/ 43 cases). Worse motor function was associated with progressive prenatal ventriculomegaly, level of lesion and VP shunt placement. Conclusions We describe the prenatal diagnosis, natural history and long-term outcome of a large contemporary cohort of SB fetuses and infants. In an era of pioneering fetal surgical techniques for in-utero SB repair, it is important to acknowledge that advances in conventional neonatology and pediatric neurosurgery have allowed increased life expectancy and improved quality of life in patients with SB. Copyright (c) 2018 ISUOG. Published by John Wiley & Sons Ltd.

We assessed short- and mid-long-term clinical efficacy of transanal irrigation (TAI) and its effect on the quality of life of children with spina bifida (SB) and anorectal malformations (ARM).

Purpose The purpose of this paper is to investigate occult spinal dysraphisms (OSD) using lumbar ultrasonography (LUS) in newborns presenting with specific skin markers or sacrococcygeal dimple. Method From 2012 to 2015, we performed LUS in newborns with cutaneous stigmata and/or sacroccygeal dimple. Magnetic resonance imaging (MRI) was performed in all patients with abnormal ultrasound or features of neurological involvement in order to detect spinal lesions. Results We prospectively evaluated 475 newborns who presented cutaneous stigmata performing LUS during their 4 weeks of life though 439 completed the study. All patients had a follow-up of almost 12 months. Of these, 39 presented abnormal ultrasonography and underwent MRI. In this group, spinal dysraphism was confirmed in 12 patients. When considering skin markers, dermal sinus correlated with higher risk of spinal cord lesions, on the other hand the presence of simple sacral dimple alone denoted a very low risk of occult spinal dysraphism. The simultaneous presence of more skin markers and/or the presence of lumbar ultrasonography abnormality regarding the level of the conus, pulsatility, and the position of the cord, thickness of the filum terminale, or the presence of an intratecal mass, lipoma, or dermal sinus tract indicated the necessity to perform MRI in order to detect spinal cord abnormalities because of higher risk of spinal lesions. Conclusion LUS in newborns with specific skin markers is a valid method to select patients in which MRI can be performed to detect OSD. The presence of a simple sacral dimple alone is a negligible marker for occult neural pathology while the presence of isolated dermal sinus or more than one cutaneous marker could be considered indicative of higher risk of spinal dysraphism.

A great number of newborns with spina bifida (SB) survive with a growing life expectancy. Women with SB are usually fertile and need preconception counselling and a second level management of the pregnancy. We report our experience in 15 patient with SB who have had a total of 21 pregnancies. Patients with spina bifida have had accurate preconception counselling at the "Center Spina Bifida" and/or at the Teratology Information Service "Telefono Rosso" of our University. Women who could become pregnant were advised to take a multivitamin containing 0.4–1.0 mg of folic acid daily from at least 3 months before pregnancy; in patient's categories at high risk for Neural Tube Defects (NTD) the recommendation was that is required a higher supplementation dose of folic acid (4.0–5.0 mg daily). In pregnancy, an accurate prenatal ultrasound diagnosis and a careful multidisciplinary management of secondary maternal conditions, such as kyphoscoliosis and respiratory compromise, spinal abnormalities and lower back pain, ventriculoperitoneal shunt failure, occurrence of pressure sores and urological compromise were provided until delivery. A total of 21 pregnancies occurred in 15 patient with Spina Bifida (9 closed and 6 open spinal defects). The pregnancy outcome is known in 20 cases: 2 spontaneous abortion; 19 deliveries (2 preterm and 16 term, 3 vaginal and 15 Caesarean). Indication for Caesarean delivery were mainly related to previous Caesarean section, orthopedic and urologic indications. The maternal complications were related mainly to the urinary tract and bowel pathologies; the neonatal complications were related to premature delivery. Women with SB can have and have pregnancies; although there is no yet a special protocol of care in pregnancy for SB women, they require an accurate preconception counselling and an adequate multidisciplinary management of the secondary conditions, mainly urological issues, which can exacerbate during pregnancy.

Aim In paediatric and adult patients with neurogenic bowel, transanal irrigation (TAI) of the colon has gained popularity due to the introduction of a specifically designed device. The aim of this pilot study was to present the results of TAI using the Peristeen (R) TAI system in a group of paediatric patients with anorectal malformation (ARM) and congenital or acquired spinal cord lesions (SCLs).Method Eight Italian paediatric surgery and spina bifida centres participated in the study. The inclusion criteria were age between 6 and 17 years, weight above 20 kg and unsatisfactory bowel management. Patients with chronic inflammatory bowel disease, mental disability and surgery within the previous 3 months were excluded. At the beginning of treatment (T0) and after 3 months (T1) the Bristol scale, a questionnaire assessing bowel function, and two questionnaires on quality of life (QoL) for patients aged 6-11 years (CHQ-pf50) and 12-17 years (SF36) were administered.Results Eighty-three patients were enrolled, and seventy-eight completed the study (41 ARMs, 37 SCLs). At T1, constipation was reduced in ARMs from 69% to 25.6% and in SCLs from 92.7% to 41.5%, faecal incontinence in ARMs from 50% to 18.6% and in SCLs from 39% to 9.8% and flatus incontinence in ARMs from 20.9% to 9.8% and in SCLs from 31.7% to 10%. At T0, the Bristol Stool Scale types were 1-2 in 45% of ARMs and 77.5% of SCL patients, whereas at T1 types 1-2 were recorded in only 2.5% of SCL patients. QoL improved in both groups. In the younger group, a significant improvement in QoL was recorded in ARM patients for eight of nine variables and in SCL patients for seven of nine variables.Conclusion This study showed that Peristeen TAI resulted in a significant time reduction in colonic cleansing, increased independence from the carer and improved QoL in paediatric patients with ARMs and SCLs.

To report the natural history and the long term outcome of children with prenatal ultrasonographic (US) diagnosis of spina bifida (SB), followed in a third level centre from February 1980 to December 2015. 222 SB cases (194 open and 28 closed spinal defects) were followed prenatally. An elective Caesarean section was planned, excluding non-viable fetuses and cases with small skin-covered SB. Early surgical repair was done in all viable newborns with open SB. In case of hydrocephalus, a third ventriculostomy or ventriculoperitoneal shunt were provided. The follow up was performed by our multidisciplinary team. 212 SB fetuses were identified by US, in 10 cases the prenatal diagnosis was missed (4.5%) but in 7/10 cases ventriculomegaly (VM) had been diagnosed. VM was seen prenatally in 159 cases (71.6%). Pregnancy outcome is known in 218 cases: 2 spontaneous abortion; 40 termination (TOP); 178 deliveries (32 preterm and 146 term, 11 vaginal and 167 Caesarean, 4 stillbirth and 174 live births). Among the live births, 156 underwent surgical repair of SB and 116 (66.6%) had a shunting procedure for hydrocephalus. Perinatal/infant mortality was 17.8% (31 cases). The neurodevelopmental outcome of 130 babies (median 12 years, range 2–25 years) shows normal intellectual ability in 80% of cases. Prenatal VM correlates with postnatal IQ: babies with absent VM shows normal intellectual ability in 87%, whereas babies with progressing prenatal VM had normal outcome in only 67% of cases. Despite the possibility of primary prevention with folic acid, the fetuses with SB keep coming referred to our Centre. Although the postnatal outcomes are satisfactory, in terms of patient survival and of quality of life, the SB malformation remains a serious health condition and it is necessary to increase the efforts for primary prevention and for in utero therapy of prenatally diagnosed cases.

The aim of our study was to investigate the relationship between bone mineral density (BMD), vitamin D, and electrolyte blood values in patients with spina bifida, to find a possible therapeutic regimen and an intervention to reduce the risk of fractures in this population.

To report the prenatal ultrasonographic (US) diagnosis of spina bifida (SB), its natural history and the long term outcome of newborns, followed in a single center from February 1980 to December 2014. 213 SB cases (186 open, 27 closed) were followed prenatally. An elective Caesarean section was planned in viable fetuses, excluding small skin-covered SB cases. Early surgical repair was done in all livebirths with open SB. In case of hydrocephalus a third ventriculostomy or ventriculoperitoneal shunt were provided. The follow up was performed by our multidisciplinary team. 203 SB fetuses were identified by US (2 cases in the first trimester, 108 cases in the second and 93 in the third); among the 10 unidentified SB cases (4.7%), in 7 had been diagnosed ventriculomegaly (VM). VM was found prenatally in 152 cases (71.4%). Pregnancy outcome is known in 208 cases: 2 spontaneous abortion; 37 terminations (TOP); 169 deliveries (32 preterm and 137 term, 11 vaginal and 158 Caesarean, 4 stillbirth and 165 live births). Among the 165 live births, 145 underwent surgical repair of SB and 109 had a shunting procedure. Perinatal/infant mortality was 18.8% (31 cases). The neurodevelopmental outcome of 103 babies (median 8 years, range 2–19 years) shows normal intellectual ability in 79 cases (76.6%). Prenatal VM correlates with postnatal IQ: babies with absent VM shows normal intellectual ability in 84.2%, whereas babies with progressing prenatal VM had normal outcome in 66.6%. In comparing 2 periods in our series, February 1980 – December 1994 (Group A, 72 cases) and January 1995 – December 2014 (Group B, 141 cases), the main differences concern the Prenatal diagnosis (Group A: 66,7% in the third trimester; Group B 65,3% in the second trimester), the Postnatal survival (Group A: 71,7%; Group B: 86.4%) and Postnatal neurosurgery (Group A: 88,3%; Group B: 92.9%). Over time, prenatal diagnosis and neonatal prognosis of SB fetuses has improved.

PURPOSE:The aim of the present study is to evaluate the auditory system in children affected by myelomeningocele and comparing the results with clinical neurological conditions.MATERIALS AND METHODS:Forty-three children, aged between 7 and 26 years, affected by myelomeningocele were investigated by means of subjective tonal audiometry and objective impedance audiometry (tympanometry and acoustic stapedial reflex).RESULTS:Audiological evaluation showed an alteration in 32 patients (74%%). Nine patients presented a mild hearing loss: bilateral in six cases (three sensorineural, one mixed, and two conductive) and unilateral in three cases (two mixed and one conductive). One patient had moderate unilateral conductive deafness and, finally another one severe unilateral sensorineural. Almost all patients with deafness were affected by myelomeningocele and Chiari II. Stapedial-cochlear reflex investigation showed an alteration in 30 patients (70%): 9 of these also showed deafness while the remaining 21 was normal hearing. In these 30 patients, we demonstrated the presence of myelomeningocele, hydrocephalus, and Chiari II malformation in 21 subjects (70%).CONCLUSION:Otoneurological evaluation is important in myelomeningocele not only at the birth but also in the follow-up. It could have an important prognostic role for neurological impairment.

BACKGROUND: Neurotrophic factors, such as Nerve Growth Factor (NGF), play a key role in the stimulation of sprouting, synaptic plasticity, and reorganization after spinal cord damage.AIM: The aim of this study was to investigate the expression of nerve growth factor (NGF) in the cerebrospinal fluid (CSF) of newborns with myelomeningocele (MMC) and to determine its correlation with this spinal malformation.PATIENTS AND METHODS: To measure the expression of NGF, we collected CSF samples of 14 newborns with MMC taken immediately before the neurosurgical correction of the spinal malformation and of 14 matched controls. Endogenous NGF levels were quantified using a two-site immuno-enzymatic assay. The statistical analysis was performed using the Mann-Whitney two-tailed two-sample test.RESULTS: In the CSF of patients with MMC, NGF levels showed a significant increase compared to the mean levels of the control group (63.05 +/- 7.3 vs 18.32 +/- 4.5 pg/mL; (p < 0.001). No correlation was found between NGF expression and different types of MMC malformation, such as the level of spinal lesion and the association with Chiari II syndrome.CONCLUSIONS: Our study shows an over-expression of NGF in the CSF of newborns with MMC. The observed pattern of NGF up-regulation in this subset of patients may stimulate axonal sprouting and synaptic reorganization of the damaged neural cells at the site of spinal cord injury, thereby representing an important biochemical marker of spinal cord damage in MMC patients.

Background The pathogenesis of the hydrocephalus associated with myelomeningocele (MMC) has been the subject of an extensive number of studies. The contemporary reduction of the incidence of the Chiari II malformation and of the associated active hydrocephalus after closure of the spinal defect in utero is in line with previous studies suggesting a prominent role of the posterior cranial fossa abnormalities, where even the increased venous pressure might be at least mostly a consequence of the constriction of the posterior cranial fossa structures. Pure absorptive abnormalities however coexist, the main ones documented to be abnormal cisternal spaces and peculiar cerebrospinal fluid chemical features. Materials and methods We reviewed the pertinent literature concerning the pathogenesis and management of the hydrocephalus associated to MMC. We also reviewed our personal experience in managing the hydrocephalus in such patients through an endoscopic third ventriculostomy. Results and conclusions The literature review demonstrated an overall reduction in more recent series of children with MMC needing to be treated for the associated hydrocephalus postnatally, questioning the role of the prenatal care of the disease in this context. Less severe conditions and a more conservative neurosurgical attitude have certainly contributed to the reduction of the reported active postnatal hydrocephalus rate. Long-term cognitive evaluation of the children with MMC that we managed with an endoscopic third ventriculocisternostomy (ETV) as primary as well as secondary procedure did not demonstrate significant differences in the outcome compared with non-complicated extrathecally shunted children, favouring ETV as a valuable option in this subset of patients.

Study design: Prospective study. Objectives: The objective of this study was to assess the prevalence of small intestinal bacterial overgrowth (SIBO), methane (CH 4 ) production and orocecal transit time (OCTT) in children affected by myelomeningocele. Setting: This study was conducted at the Catholic University in Rome, Italy. Methods: Eighteen (6M/12F; 16.4±7.6 years) children affected by myelomeningocele were enrolled. All subjects underwent H 2 /CH 4 lactulose breath tests to assess SIBO and OCTT. All patients performed a visual analog scale to investigate abdominal pain, bloating and flatulence, and maintained a diary of the frequency and consistency of the stool during the previous 7 days. A nephro-urological clinical evaluation of the number of urinary tract infections (UTIs) and neurogenic bowel disease score were also performed. Results: Thirty-nine percent (7/18) of the children showed SIBO and 61% (11/18) presented a delayed OCTT. Moreover 44.4% (8/18) produced high levels of CH 4 . Interestingly, all myelomeningocele children who produced CH 4 showed a delayed OCTT and a higher incidence of UTI, with a lower frequency of evacuation, compared with those with a normal or accelerated OCTT. Conclusion: The association between CH 4 and constipation suggests that CH 4 has an active role in the development of constipation. One of the most interesting features of our study is to identify a correlation between myelomeningocele, CH 4 , delayed OCTT and UTI. The intestinal decontamination with locally acting drugs in these children may reduce the number of UTIs and improve intestinal motility.

STUDY DESIGN Prospective study on local treatment of pressure sores using calcium alginate and foam dressings in spina bifida patients. OBJECTIVE Investigate if this sequential approach is valid and safe for selected patients with neurological impairments. MATERIALS AND METHODS Using European Pressure Ulcer Grading System, after clinical evaluation of local sore, selected patients of Spina Bifida Center of Rome were treated with sequential calcium alginate and foam dressings for 12 weeks. Pressure ulcere surfaces were measured monthly by ulcer tracing. The endpoints were the mean absolute areas surface reduction during every month and number of patients achieving a 50% or more during study. RESULTS 14 patients (7 males aged 12-24 years) with spina bifida and pressure sores were treated. Mean and standard deviation of mean surface area reduction were 12.5 ± 7.5 cm 2 at start of the study versus 3.7 ± 5.2 cm 2 after 12 weeks, p < 0.001. 75% of the patients reached mean surface area reduction of 50% during trial. Dressing tolerance was good in every patient. CONCLUSIONS Calcium alginate and foam dressings are valid and safe approach in the treatment of pressure sores in selected patients with spina bifida. In fact, they protect the wound and create an environment favorable to healing.

BACKGROUND:Fetal hydronephrosis is the most common anomaly detected on antenatal ultrasound examination, affecting 1-5% pregnancies.AIM:A new management in mild antenatal renal pelvis dilatation (ARPD), using a technique based on both morphological and dynamical evaluation.MATERIALS AND METHODS:Prospective study conducted during a 36-months period in 180 consecutive newborns referred as having mild ARPD. Examinations consisted in a morphological ultra-sound (US) scan evaluating antero-posterior diameter, renal parenchyma, ureteral evidence and pelvis morphology and, subsequently, a dynamic evaluation to analyze any change of the urinary tract during bladder voiding. All children were evaluated both at 3rd day and 1 month after birth. They were divided among those with negative examinations and those with at least one positive scan, trying to discriminate within the latter, children suspected for transient pyelectasis from those suspected for organic pathology.RESULTS:108 patients had normal US findings both at birth and at 1 month. The remaining 72 babies had at least one abnormal US examination: 54 were suspected for transient pyelectasis, while 18 suspected for organic pathology. At the end of the study, 61 babies (33.9%) had final diagnosis of transient pyelectasis and 11 cases (6.1%) of organic pathology. At one month the dynamic pattern of US findings had the highest negative predictive value, while renal parenchyma evaluation has the highest accuracy.CONCLUSIONS:a dynamic US approach allowed to better select among infants suspected for transient pyelectasis from those suspected for organic pathology, avoiding unnecessary and invasive examinations in healthy babies.

Henoch-Schönlein purpura (HSp) is the most common systemic vasculitis of childhood with typical skin involvement and concurrent signs involving joints, gastrointestinal tract, and kidney. HSp pathogenesis is still far from being completely understood, though a knotty cytokine complex is believed to contribute to its intimate processes. The aim of our evaluation is to establish the relationship between serum levels of interleukin (IL)-18 and disease outcome and establish its feasibility to provide a marker of disease activity or even a prognostic tool in clinical practice. We examined clinical/laboratory variables and serum IL-18 in 17 children hospitalized during a year for HSp, diagnosed by EULAR/PRINTO/PRES criteria; the same patients were re-evaluated after 6 months. All results were compared with 25 age-matched healthy controls. IL-12 and IL-6 were also evaluated in a cohort of the same patients and compared with controls. General and clinical variables (sex, edema of the extremities, gastrointestinal or renal complications, relapses and renal involvement at 6 months) had no relationship with cytokine levels. Serum IL-18 and IL-6 levels were found significantly increased at diagnosis in HSp patients when compared with healthy controls. After 6 months, serum IL-18 and IL-12 levels were significantly decreased in patients, while IL-12 and IL-6 levels were significantly increased compared to healthy controls. Though preliminary and expecting further confirmation on a larger sample, our data support the conclusion that serum IL-18 levels reflect HSp activity.

A total of 60 children with myelomeningocele referred to Spina Bifida Center of Rome (31 boys and 29 girls; aged 8–17 years) were treated with transanal irrigation for three months. To investigate whether transanal irrigation is a valid and alternative approach for neurogenic constipation in children with myelomeningocele. A questionnaire on bowel disturbances, quality of life and side effects was completed before the beginning and at the termination of the study. Italy About 60% (36/60) of patients reported relief from constipation and 75% (12/16) for fecal incontinence. Wheelchair-bound and walking patients showed same high improvement of bowel habit. Mean (s.d.) scores before and after the study were: neurogenic bowel dysfunction total score: 17.5 (5.2) versus 8.5 (4.3) (P<0.001); digital stimulation of anorectum: 4.2 (2.8) versus 1.3 (2.5) (P<0.01); frequency of fecal incontinence: 5.5 (1.2) versus 1.3 (1.7) (P<0.01) and degree of general satisfaction: 3.0 (2.4) versus 7.7 (1.5) (P<0.001).We observed a reduction of urinary tract infections during the course of treatment: 14 total urinary tract infections (9 caused by Escherichia coli) before versus 6 (3) during treatment (P<0.01) Transanal irrigation in children with myelomeningocele is an alternative and relatively safe approach for managing neurogenic constipation; in fact, it improves bowel disturbances, quality of life and seems to reduce the risk of urinary tract infections.

The aim of this study is to investigate if transanal irrigation is a valid approach for neurogenic constipation in children with myelomeningocele. 100 patients (60 boys and 40 girls; aged 8-20 y) with neurogenic bowel dysfunction were treated with transanal irrigation for six months A questionnaire on the effects on bowel disturbances, self-management and quality of life related to neurogenic constipation was completed before and after the trial. At the end of the trial 66 % (66/100) of patients referred a successful in constipation and 70% (70/100) regarding faecal incontinence Questionnaire scores before and at termination of the study showed that neurogenic bowel dysfunction total score (range 0-47, 47= severe bowel dysfunction) was 175 (52) versus 85 (43) (P = 001), frequency of fecal incontinence (range is 0-13, 13= daily) was 55 (12) versus 13 (17) (P = 01) and degree of general satisfaction (range 0-10, 10= high satisfaction) was 30 (24) versus 77 (15) (P = 001). We observed a moderate reduction of number of urinary tract infections during treatment particularly regarding EColi infections: 24 total urinary tract infections (18 by E Coli) in 6 months before versus 12 (9) during treatment (P< 001) No changing regarding urodynamic parameters were found No severe adverse effects were reported and treatment was been well tolerated by younger children too. Transanal irrigation is a valid approach for managing of neurogenic constipation in fact it improves bowel disturbances, quality of life and seems to reduce urinary tract infections.