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Van der Woude syndrome (VWS) and popliteal pterygium syndrome (PPS) spectrum are due to genetic variants in the IRF6 which phenotypically has been known to manifest with midline defects such as cleft lip and palate in VWS and additional nail, limb and genital anomalies in PPS. We report a case of VWS with the previously unrecognised phenotypic feature of hemiscrotal agenesis. While bifid scrotum has been reported in the more severe PPS, neither VWS nor PPS have previously noted hemiscrotal agenesis as part of the phenotypic picture. Hemiscrotal agenesis without evidence of any genetic anomaly has only been reported four times in the literature to date with two of these being accompanied by complete testicular descent. Treatment options include topical androgen application and/or scrotoplasty to allow for adequate testicular thermoregulation and development to occur.

Aims We evaluated the efficacy of standard urotherapy and combination therapies in treatment of bladder dysfunction in children with treated behavioral disorders. Methods Prospective study of children (6‐16 years) with bladder dysfunction and behavioral disorders was conducted between March 2018‐2020. Eligible children were initially offered standard urotherapy and those with no response at 3 months were offered combination therapies. Symptomatic response, changes in Akbal score and PinQ score were reported at 6 months and outcomes were correlated to behavioral diagnoses and medications. Results Thirty‐nine consecutive children (male = 27, mean age [SD] 10.3 [±2.0] years) were recruited, of whom 29 completed the study (five lost to follow‐up, three non‐compliant to treatment, two excluded). Thirty‐four (87%) children had attention deficit/hyperactivity disorder. Monosymptomatic nocturnal enuresis (n = 11) and non‐monosymptomatic enuresis (n = 17) were the commonest diagnoses. Following 3‐month review, 14 (38%) children continued to receive standard urotherapy, while 15 (41%) children were transitioned to combination therapy. At 6‐month review, complete/partial response was seen in 62% (23/37) and no response in 16% (6/37); with 32% (12/37) responding to standard urotherapy alone. Akbal symptom scores (15.9‐11.5; P < 0.01) and PinQ scores (26.0‐19.5; P = 0.008) improved significantly at 6‐month follow‐up. Type of underlying behavioral disorder(s) or medications for behavioral disorder did not influence the outcomes. Conclusion This study confirms that children with underlying behavioral disorders are able to have a good response to the appropriate therapy for their bladder dysfunction with a third of children responding to standard urotherapy alone.

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Bladder dysfunction and behavioural disorders in children are commonly concomitant; hence, it is difficult to treat each in isolation. Pharmacotherapy is common treatment for behavioural disorders, and these medications may have intended or unintended positive or negative bladder sequelae. This review identifies the literature regarding the effects of behavioural pharmacotherapy on bladder functioning and possible bladder management strategies in children with concomitant behaviour and bladder disorders to enable clinicians to better manage both conditions. A PROSPERO registered PRISMA-guided review of three major databases was performed. After an initial scoping study revealed significant heterogeneity, a narrative approach was undertaken to discuss the results of all relevant cases relating to children being treated with pharmacotherapy for behaviour disorders and outcomes related to bladder function. Studies were screened to identify those that described effects of commonly prescribed medications in children with behavioural disorders such as stimulants, alpha 2 agonists, tricyclic antidepressants (TCA), serotonin and noradrenergic reuptake inhibitors (SNRI), selective serotonin reuptake inhibitors (SSRI) and antipsychotics, and the findings and implications were summarised. The review identified 46 studies relevant to behavioural pharmacotherapy and bladder function (stimulants (n = 9), alpha 2 agonists (n = 2), TCAs (n = 7), SNRIs (n = 8), SSRIs (n = 8) and antipsychotics (n = 6). Six studies focused specifically on bladder management in children with behavioural disorders with concurrent behavioural pharmacotherapy. This review identifies useful factors that may assist clinicians with predicting unintended bladder effects following initiation of behavioural pharmacotherapy to facilitate the best approach to the treatment of bladder dysfunction in children with behavioural disorders. With this evidence, we have provided a useful decision-making algorithm to aide clinicians in the management of these dual pathologies.

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