Three hundred ten individuals with a clinical diagnosis of de Lange syndrome were seen and examined in conjunction with the parent support group. One hundred thirty-four males and 176 females whose ages ranged from birth to 37 years made up the study group. Examination findings were recorded for those features described by de Lange in her original report of the syndrome to determine the frequency and significance of each. In addition, questionnaires were completed by 128 of these families and medical, growth and developmental records were collected. The clinical diagnosis seems best supported by the facial features of the syndrome including the long eyelashes and confluent eyebrows (synophrys), although additional characteristics are needed. Only 27% had the upper limb deficiencies commonly associated with the syndrome. Growth was retarded in nearly all individuals, often of prenatal onset. Medical problems occurred frequently and most often involved the eye and ear, as well as the cardiac and gastrointestinal systems. Of 14 deaths, almost half were secondary to cardiac or gastrointestinal complications. The recurrence risk in 377 sibs of the patients was calculated to be less than 1%. Although development lagged significantly in speech, most individuals developed good self-help skills. The study demonstrated a higher proportion of patients affected mildly with the syndrome than is commonly appreciated. This underscores the importance of early recognition and appropriate medical and developmental support.

Objective Faecal incontinence (FI) is a socially devastating problem. Sacral nerve modulation (SNM) has proven its place in the treatment of patients with FI. In this study, the first 100 definitive SNM implants in a single centre have been evaluated prospectively.Method Patients treated between March 2000 and May 2005 were included. Faecal incontinence was defined as at least one episode of involuntary faecal loss per week confirmed by a 3-week bowel habit diary. Patients were eligible for implantation of a permanent SNM when showing at least a 50% reduction in incontinence episodes or days during ambulatory test stimulation. Preoperative workup consisted of an X-defaecography, pudendal nerve terminal motor latency measurement, endo-anal ultrasound and anal manometry. The follow-up visits for the permanent implanted patients were scheduled at 1, 3, 6 and 12 months and annually thereafter. The bowel habit diary and anal manometry were repeated postoperatively during the follow-up visits.Results A total of 134 patients were included and received a subchronic test stimulation. One hundred patients (74.6%) had a positive test stimulation and received a definitive SNM implantation. The permanent implantation group consisted of 89 women and 11 men. The mean age was 55 years (range 26-75). The mean follow-up was 25.5 months (range 2.5-63.2). The mean number of incontinence episodes decreased significantly during the test stimulation (baseline, 31.3; test, 4.4; P < 0.0001) and at follow-up (36 months postoperatively, 4.8; P < 0.0001). There was no significant change in the mean anal resting pressure. The squeeze pressures were significantly higher at 6 months (109.8 mmHg; P ¼ 0.03), 12 months (114.1 mmHg; P ¼ 0.02) and 24 months postoperatively (113.5 mmHg; P ¼ 0.007). The first sensation, urge and maximum tolerable volume did not change significantly. Twenty-one patients were considered late failures and received further treatment.Conclusion Sacral neuromodulation is an effective treatment for FI. The medium-term results were satisfying.

Sacral neuromodulation is a feasible treatment option for fecal incontinence in patients with structurally intact sphincters.

Objective Sacral nerve modulation (SNM) for the treatment of faecal incontinence was originally performed in patients with an intact anal sphincter or after repair of a sphincter defect. There is evidence that SNM can be performed in patients with faecal incontinence and an anal sphincter defect.Method Two groups of patients were analysed retrospectively to determine whether SNM is as effective in patients with faecal incontinence associated with an anal sphincter defect as in those with a morphologically intact anal sphincter following anal repair (AR). Patients in group A had had an AR resulting in an intact anal sphincter ring. Group B included patients with a sphincter defect which was not primarily repaired. Both groups underwent SNM. All patients had undergone a test stimulation percutaneous nerve evaluation (PNE) followed by a subchronic test over 3 weeks. If the PNE was successful, a permanent SNM electrode was implanted. Follow-up visits for the successfully permanent implanted patients were scheduled at 1, 3, 6 and 12 months and annually thereafter.Results Group A consisted of 20 (19 women) patients. Eighteen (90%) had a positive subchronic test stimulation. Twelve patients had a successful SNM implant during middle-term follow-up. Group B consisted of 20 women. The size of the defect in the anal sphincter varied between 17% and 33% of the anal circumference. Fourteen (70%) had a positive subchronic test stimulation. Twelve patients had a successful SNM implant during middle-term follow-up. In both groups, the mean number of incontinence episodes decreased significantly with SNM (test vs baseline: P = 0.0001, P = 0.0002). There was no significant difference in resting and squeeze pressures during SNM in group A, but in group B squeeze pressure had increased significantly at 24 months. Comparison of patient characteristics and outcome between groups A and B revealed no statistical differences.Conclusion A morphologically intact anal sphincter is not a prerequisite for success in the treatment of faecal incontinence with SNM. An anal sphincter defect of <33% of the circumference can be effectively treated primarily with SNM without repair.

Retrograde colonic irrigation is an effective method to treat patients with faecal incontinence after a low anterior resection for rectal carcinoma. Retrograde colonic irrigation is not invasive and has only mild side effects.