Patients with anorectal malformation and upper limb anomalies: genetic evaluation is warranted.

UNLABELLED: The objective of this study was to compare the prevalence of genetic disorders in anorectal malformation (ARM) patients with upper limb anomalies to that in ARM patients with other associated anomalies. A retrospective case study was performed in two pediatric surgery centers. All patients born between 1990 and 2012 were included. VACTERL (vertebral defects (V), anal atresia (A), cardiac malformations (C), tracheoesophageal fistula with esophageal atresia (TE), renal dysplasia (R), and limb anomalies (L)) was defined as at least three components present. We included 700 ARM patients: 219 patients (31 %) had isolated ARM, 43 patients (6 %) had a major upper limb anomaly, and 438 patients (63 %) had other associated anomalies. The most prevalent upper limb anomalies were radial dysplasia (n = 12) and hypoplastic thumb (n = 11). Ten of the 43 patients (23 %) with an upper limb anomaly were diagnosed with a genetic disorder-nine also met the VACTERL criteria-vs. 9 % of ARM patients with other anomalies (p = 0.004, chi-squared test). CONCLUSION: Genetic disorders are twice as frequently diagnosed in ARM patients with upper limb anomalies than in those with other anomalies. As they also frequently meet the VACTERL criteria, it is important to consider VACTERL as a diagnosis per exclusionem. Genetic counseling is certainly warranted in these patients. WHAT IS KNOWN: • Anorectal malformations (ARMs) often co-occur with other congenital anomalies, including upper limb anomalies, mainly of pre-axial origin. • Co-occurrence of ARMs and upper limb anomalies is seen in disorders such as Townes-Brocks syndrome, Fanconi anemia, and VACTERL association. What is New: • ARM patients with a major upper limb anomaly-with or without other congenital anomalies-have a twofold greater chance of a genetic disorder than have non-isolated ARM patients without upper limb anomalies. • Not all upper limb anomalies in ARM patients are part of the VACTERL association; a workup for genetic evaluation is proposed.

Children with congenital colorectal malformations often require special education or remedial teaching, despite normal intelligence.

AIM: This study prospectively evaluated neuropsychological functioning in 8-year-old patients with anorectal malformation (ARM) and Hirschsprung's disease (HD). METHODS: School functioning and behaviour were assessed in a standardised interview. Intelligence, attention, self-esteem and quality of life were evaluated with validated tests and questionnaires. The following predictors were assessed: socio-economic status, number of episodes of general anaesthesia, laxative treatment and premature birth. Severely intellectually disabled patients were excluded. RESULTS: In total, twelve of the 23 (52%) patients with ARM and 11 (55%) of the 20 patients with HD received special education or remedial teaching. The intelligence quotient was normal: mean (standard deviation or SD) was 98 (17) and 96 (17), respectively. However, sustained attention was below the norm: mean (SD) Z-score was -1.90 (1.94) and -1.43 (1.98) for ARM and HD patients; both p < 0.01. Self-esteem was normal: mean (SD) Z-score was 0.10 (1.29) and -0.20 (1.11) for ARM and HD patients. Quality of life was normal in ARM patients and slightly impaired in HD patients. No predictors for neuropsychological outcome were identified. CONCLUSION: Despite normal intelligence, more than half of these patients received special education or remedial teaching. In addition, problems with sustained attention were found. These findings are important for long-term care.

Psychosexual Well-Being after Childhood Surgery for Anorectal Malformation or Hirschsprung's Disease.

INTRODUCTION: Anorectal malformations (ARMs) and Hirschsprung's disease (HD) are congenital malformations requiring pelvic floor surgery in early childhood, with possible sequelae for psychosexual development. AIMS: To assess psychosexual well-being in adult ARM and HD patients related to health-related quality of life. METHODS: Eligible for this cross-sectional two-center study were all patients aged ≥18 years who had been operated for ARM or HD. Exclusion criteria were intellectual disability, comorbidity affecting sexual functioning, and cloacal malformation. MAIN OUTCOME MEASURES: Participants completed the International Index of Erectile Functioning, Female Sexual Functioning Index, Female Sexual Distress Scale, Hirschsprung and Anorectal Malformation Quality of Life Questionnaire, and sexual education questionnaire. RESULTS: Response rates were 32% and 37% for ARM and HD patients, respectively. We studied 70 participating ARM and 36 HD patients (median age 26 years). We excluded 10 patients with sexual inactivity in the past 4 weeks. Six of 37 men with ARM (16%) reported moderate to severe erectile dysfunction, vs. two of 18 men with HD (11%). Thirteen and 10 of 26 women with ARM (50% and 38%) reported sexual dysfunction or sexual distress, respectively, vs. eight and three of 15 women with HD (53% and 20%). Quality of life and type of malformation or operation were not associated with self-reported psychosexual problems. Addressing sexuality with special interest to the congenital anomaly during medical care was reported to be insufficient by 42 ARM (60%) and 22 HD patients (61%). CONCLUSION: Approximately 13% of male ARM and HD patients reported erectile dysfunction, while 50% female ARM and HD patients reported sexual dysfunction not related to quality of life or type of malformation. Both ARM and HD patients felt a need for better addressing sexual concerns during medical care. Further research is needed to optimize form and timing of this education.

Sensorineural hearing loss and language development following neonatal extracorporeal membrane oxygenation.

OBJECTIVES: To determine the prevalence of hearing loss in school-age children who have undergone neonatal extracorporeal membrane oxygenation treatment and to identify any effects of hearing loss on speech- and language development [corrected] . DESIGN: Prospective longitudinal follow-up study within the framework of a structured post-extracorporeal membrane oxygenation follow-up program. SETTING: Outpatient clinic of a level III university hospital. RESULTS: Tone audiometry was performed by standardized protocol in 136 children aged 5-12 yrs. Hearing loss was considered clinically significant when >20 dB. Hearing was normal in 75.7% of children. Five children (3.7%) had bilateral sensorineural or combined hearing loss; three of them received special audiological care (2.2% of total sample). Of the 24 children with congenital diaphragmatic hernia, 19 (79.2%) had normal hearing and only two (8.3%) had mild sensorineural hearing loss, unilateral in one of them. Follow-up at 24 months of age had shown normal verbal and nonverbal developmental scores. Language development and intelligence median (range) scores at 5 yrs of age were also normal: receptive language development 104 (55-133), syntactical development 104 (68-132), and lexical development 101 (50-141) for 89 children; intelligence quotient 104 (68-132) for 106 children. Scores did not differ among those with normal hearing, mild hearing loss, and moderate-to-severe hearing loss (p = 0.800, p = 0.639, p = 0.876, and p = 0.886, for the respective developmental tests). CONCLUSIONS: We found normal language development and intelligence in a cohort of neonatal extracorporeal membrane oxygenation survivors. The prevalence of bilateral sensorineural hearing loss was in accordance with that of a larger series in the United States-which exceeds the prevalence in the normal population.

Endovascular bypass as a strategy for long femoropopliteal lesions.

INTRODUCTION: Endovascular treatment has become the predominant treatment modality for femoropopliteal lesions. In longer and more complex lesions advanced technology is often required to improve results, with the endovascular bypass being one of them. EVIDENCE ACQUISITION: A systematic review of the literature was performed to determine the clinical and technical outcomes of the latest generation endoprosthesis, with heparin bioactive surface and contoured proximal edge. EVIDENCE SYNTHESIS: 13 articles were enrolled: 3 randomized controlled trials, 4 prospective multicenter trials and 6 retrospective studies. The VIASTAR trial showed that the endoprosthesis has a better two-year primary patency compared to bare metal stenting, especially in long lesions (62% vs. 27%, P=0.004). The SUPERB trial showed that the endoprosthesis had similar results compared to bypass surgery, albeit with less complications (31% vs. 55%, P=0.048). The RELINE study showed that treatment with an endoprosthesis had a better one-year primary patency compared to balloon angioplasty for in-stent restenosis (75% vs. 28%, P<0.001). In the cohort studies one-year patency rates ranged from 61% to 86% for primary patency, from 65% to 92% for primary assisted patency, and from 83% to 95% for secondary patency. CONCLUSIONS: For long femoropopliteal lesions, the heparin-bonded endoprosthesis is related to better outcomes compared to bare nitinol stents, and comparable outcomes as with the femoropopliteal bypass, but with less complications. There is a wide range in primary patency rates, with consistent high secondary patency rates. The endovascular bypass can be considered an appropriate strategy in these patients.

Screening and Treatment of Tethered Spinal Cord in Anorectal Malformation Patients.

INTRODUCTION: This study aims to evaluate diagnosis and treatment of tethered spinal cord (TSC) in anorectal malformation (ARM) patients. MATERIAL AND METHODS: A retrospective case study was performed on patients with an ARM born between 2004 and 2011 and treated at the Erasmus MC-Sophia Children's Hospital. RESULTS: During the study period, 110 neonates with ARM were treated. Spinal ultrasonography was performed in 94 (85%) patients. Ultrasonography findings were abnormal in 17 patients (18%): 16 had evidence for TSC and 1 for caudal regression. These findings were confirmed by magnetic resonance imaging (MRI) in eight patients. Six of the other 76 patients developed neurologic symptoms and MRI revealed evidence for TSC in 2 of those 6 patients. Thus, sensitivity of spinal ultrasonography was 80%, specificity was 89%, the positive predictive value was 47%, and the negative predictive value was 97%. The prevalence of TSC, as confirmed by MRI, was 9%. Three patients underwent untethering surgery: one patient developed neurologic symptoms and two patients were asymptomatic at the time of surgery (MRI showed progressive syringomyelia in one and the other had a dermal sinus with TSC). All operations were without any complications and the symptoms resolved in the first patient. A relationship between TSC and a specific type of ARM or syndrome disorder could not be found. CONCLUSIONS: Tethered cord occurs in 9% of the ARM patients. Neonatal spinal ultrasonography has a sensitivity and specificity of 80 and 89%, respectively. Not in all patients an MRI was performed, but the vast majority remained clinically asymptomatic concerning TSC. Ultrasound screening seems an effective screening method, however, when ultrasonography is negative and the patient becomes symptomatic later in life, an MRI should be performed to exclude TSC. In our series, only 1 of 110 ARM patients had symptomatic tethered cord syndrome, and symptoms resolved postoperatively.

To split or not to split: colostomy complications for anorectal malformations or hirschsprung disease: a single center experience and a systematic review of the literature.

INTRODUCTION: The aim of this article is to identify the ideal type and location of colostomy in children with colorectal disease. PATIENTS AND METHODS: A retrospective case study of children with an anorectal malformation who received a colostomy, born between January 1990 and July 2012. Furthermore, a systematic literature search on colostomies in neonates with an anorectal malformation or Hirschsprung disease. Colostomies were classified as loop or split colostomies in the transverse or sigmoid colon. Outcome measures were mortality and complications such as prolapse, technical difficulties with the reconstruction, urinary tract infections, and others. RESULTS: The mortality rate in the 180 children with anorectal malformation was 6%, and none of them were directly related to stoma formation or closure. The overall complication rate was 23% and the specific rates for the two types of procedures and the two locations of the colostomy did not differ (p = 0.389 and p = 0.667, respectively). All prolapses (n = 22) occurred in loop colostomies in the transverse colon. One colostomy required revision because of insufficient length for the reconstruction. Urinary tract infections were not documented. A total of eight studies were included in the systematic review (1982-2011; 2,954 patients). Mortality ranged between 0.1 and 11%. Loop colostomies had more complications than split colostomies (63 vs. 45%; p = 0.007), mainly prolapse (18 vs. 6%; p < 0.001). Overall complication rate differed between transverse en sigmoid colostomies (62 vs. 51%, p = 0.006), and prolapse occurred more often in the transverse colon (23 vs. 7%; p < 0.001). Revision because of insufficient length during the reconstruction was needed in 0 to 6%. Two studies reported on urinary tract infections which are as follows: One showed no difference between loop or split colostomies, whereas the other showed frequent episodes of urinary tract infections in 64% of the loop colostomies. CONCLUSIONS: The complication to be avoided in transverse colostomies is prolapse and the surgical technique should be modified accordingly. The procedure of split sigmoid colostomy is meticulous, and the risk of insufficient length for the reconstruction remains.

Prospective long-term follow up of children with anorectal malformation: growth and development until 5years of age.

BACKGROUND/PURPOSE: To evaluate growth and development in children with anorectal malformations and to analyze effects of type of malformation and comorbidities. METHODS: Non-syndromal children with anorectal malformations were prospectively evaluated at 0.5, 1, 2, and 5 years. Biometrics were obtained at all visits. Mental and psychomotor function development was determined. RESULTS: 108 children (59% male) were included. 49% had a high malformation, and 46% had ≥ 1 additional major comorbidity. All growth parameters were below the norm at all ages (p<0.01), irrespective of type of malformation. Children with ≥ 1 additional major anomaly had lower height at all ages; at 5 years, mean (95% CI) height was -1.83 (-2.7 to -1.1) and -0.70 (-1.3 to -0.1) in children with and without comorbidities, respectively (p=0.019). Mental development was normal, irrespective of the type of malformation or comorbidities. Motor development was delayed at all ages. At 5 years, motor development (n=30) was normal in 70%, borderline in 23%, and 7% had definitive motor problems (p=0.043). CONCLUSION: Non-syndromal children with anorectal malformations are at risk for growth impairment, especially those with additional major comorbidity. Mental development is normal. Motor development is slightly impaired. Supportive care should focus on growth, dietary management, and motor development besides defecation problems.