Bladder and bowel dysfunction, adaptive behaviour and psychiatric profiles in adults affected by autism spectrum disorders.

AIMS: Bladder and bowel dysfunction (BBD) have been recognized in children affected by autism spectrum disorder (ASD), but no consistent information exist in adults with the condition. We evaluated the prevalence of BBD and the impact of psychiatric and behavioural profiles in adults affected by ASD. METHODS: Twenty-two adults and 13 children/teens with ASD and a matched group of typically developing subjects (TD) were prospectively studied. Patients and TD subjects underwent the evaluation of urinary incontinence (UI: diurnal, continuous or intermittent), nocturnal enuresis (NE), and bowel disturbances with the 3-day voiding and bowel diary. In addition, assessment of intellectual disability (ID) and psychiatric and adaptive behaviours with the Neuropsychiatric Inventory Scale (NPI) and the Vineland Adaptive Behaviour Scale 2nd Edition (Vineland-II), was performed. RESULTS: In adults, any type of incontinence was observed in 81.8% of cases, and NE and intermittent UI in 59.0% and 36.3% of patients, respectively. Faecal incontinence and constipation were detected 36.3% and in 68.1% of cases, respectively. ID was severe in 2 cases and profound in 18; NPI and Vineland-II items most affected were "Irritability/Lability," "Motor Activity," and "Agitation," and IQ-Socialization and IQ-Communication. Significant relationships were identified between intermittent UI and greater ID (P < .02) and high "anxiety" (P < .05), and between NE and high "euphoria/elevated mood" (P < .05). These results were similar to those observed in children/teens. CONCLUSIONS: Adults with ASD, and greater ID and mood disorders, present with a high prevalence of BBD. A shared pathogenetic mechanism could underlie the co-occurrence of ASD, mood disorders, and BBD.

Beyond the Disease: "...Am I My Brother's Keeper?"

Today, the concepts of health and illness require a global vision of man; the suffering of the person places the entire environment in great difficulty: health professionals, family, society. It is important not to simplify the response to a purely health-focused view of the disorder, because fragile people possess a deep need to feel welcomed, listened to, understood and accepted. Service provision that is respectful of the dignity of the person is an important challenge both for those who are responsible for providing services to individuals and their families as well as for the entire community. Therefore in providing care the human qualities of the health professional and not only his technical skills come into play: blending together science and humanitarian ethos. The provision of care therefore "forces" us to broaden our horizons and requires us to face the challenge of responsibility towards the Other, the human condition of being-for. However, ethical capacity cannot be born solely out of sharing standards or adhering to regulations and respecting prohibitions: it stems from high and unconditional moral values and meanings. The ME-YOU relationship represents the primary ethical factor of the human being: my responsibility towards the Other is unconditional. In the book of Genesis when the Lord asks Cain: "... where is Abel, your brother?" He responds with another question: "Am I my brother's keeper?" In this biblical passage Cain kills Abel: the rejection of brotherhood and the care of the other only leads to the death of the Other. "Where is your brother?" This question is crucial in today's day and age and must be taken seriously: it is the decisive question that forces us to decide how to place ourselves in relationship with the other and with the world: do we choose proximity or distance, connection or indifference?

Urinary and bowel disfunction in autism spectrum disorder: a prospective, observational study.

BACKGROUND: Vesico- sphincter and bowel dysfunction have been frequently detected in Autism spectrum disorder (ASD) patients, but to date no consistent information exist on adults affected by the disease. We evaluated the prevalence and types of bladder and bowel disfunction (BBD) in young and adult patients affected by ASD. SUBJECTS AND METHODS: Twenty- seven adults and 20 children/teens with ASD and a matched group of typically developing subjects were enrolled. Daily pads use and episodes of urinary incontinence (UI) were recorded in a 3- day voiding diary. Patients underwent also the measurement of post-void urinary residual volume and 3- day bowel diary. In addition, type and duration of the pharmacological agents assumed by the patients were accurately recorded. RESULTS: Any type of UI was observed in 85.1% of adults and in 90% of children/teens. In adults, nocturnal enuresis (NE, 62.9%) and diurnal intermittent UI (37%) were the most frequently observed bladder dysfunction while in children/ teens were NE (75%) and diurnal continuous UI (40%). In all patients was demonstrated a significant relationship between urinary symptoms and pharmacological agents, particularly NE and clotiapine (p<0.004) and periciazine (p<0.008). CONCLUSIONS: Young and adult patients with ASD present with a high prevalence of BBD and concomitant antipsychotic medications could to play a contribution in induction and/or maintaining of BBD.

New technologies for art therapy interventions tailored to severe disabilities.

Individuals with multiple disabilities can have a wide range of characteristics depending on the combination and severity of the disabilities, such as intellectual disability, mobility issues, sensorial impairment, language issues and brain injury. New technologies can help therapists find an alternative way to engage and interact with clients by opening a communication window and starting to build the therapeutic relationship. The need to use more customized technological tools led us to develop the Painteraction system, an intuitive tool based on Augmented Reality that allows clients to be immersed in their own images. Just by moving their bodies individuals are able to make drawings and receive visual feedback, both from themselves and their therapists, as it appears on the screen. The pilot testing of Painteraction was performed on 21 inpatients at Istituto Serafico (Assisi, Italy) with severe/multiple disabilities in order to explore and assess reaction and responsiveness in a semi-structured art therapy setting. The sample was formed by 14 males and 7 females (N=21) between the ages of 7 and 35. All participants attended three twenty-minute individual art therapy sessions which were approximately one week apart. Through direct and indirect (video recordings) observation of the sessions, it appeared that the specific Augmented Reality tool introduced in the art therapy setting was easily accepted by most of the clients involved and generally allowed the development of an interpersonal therapist-client relationship. The present study therefore gave us the opportunity to test new digital tools in the challenging setting of severe/multiple disabilities and observe the huge potential of new media to empower clients to express themselves and their creativity, and ultimately overcome mental and physical barriers. We propose that Augmented Reality tools are particularly well-suited to art therapy and create an equally suitable therapeutic environment to address specific client needs.

Evaluation of the Quality of Rehabilitation Treatment in Neurodevelopmental Disorder.

Complex disability is very difficult to manage. It usually subtends very serious clinical pictures, because it affect several body systems, or because it is associated with intellectual disability and behavioral disorders. Often affected patients are unable to communicate their basic needs. All these factors combine to make the management of these patients very complex, and those who care for them realize how important it is to find a way to detect their state and to identify their potential capabilities. Developing appropriate rehabilitation programs for these patients requires additional effort and an assessment capacity that is as objective as possible. Few scales cited in the literature are capable of evaluating these aspects in patients with complex disabilities, among them the Barthel Index (Mahoney & Barthel 1965) and the Vineland Adaptive Behavior scale II (Sparrow et al. 2005). The majority of these scales often tend to depict the data regarding the disease to a degree of severity that precludes adequate individual rehabilitation program development. There is a dire need for a more appropriate instrument, an observational grid that is capable of identifying the potential of this patient population and evaluate the effectiveness of rehabilitation interventions provided. The aim of the study is to evaluate the efficacy of rehabilitation interventions in a group of patients with IQ <32 (determined by the Vineland II scale) using an evaluation tool created ad hoc called D-Rubrics, designed with the intent to identify "micro-differences" between baseline (T0) and post-rehabilitation (T1). The goal is part of a more long term-term objective which involves developing an effective assessment tool for patients with complex disabilities. Such an assessment tool should be practical, easy to administer and useful in both clinical and research settings.

The Effect of Mozart's Music in Severe Epilepsy: Functional and Morphological Features.

Music is a very important factor in everyday life, involving mood, emotions and memories. The effect of music on the brain is very debated. Certainly, music activates a complex network of neurones in auditory areas, mesolimbic areas, cerebellum and multisensory areas. In particular, music exerts its effects on the brain of patients with epilepsy, having a dichotomous influence: it can either be seizure-promoting in musicogenic epilepsy or antiepileptic. Several studies have shown that seizure-prone neural networks may be stimulated by certain periodicities while other frequencies may prevent seizure activity. There are a lot of data in the literature about the so-called "Mozart effect" (Rauscher et al. 1993). In previous studies we observed that in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy, a systematic music listening protocol reduced the frequency of seizures in about 50% of the cases. In this study we are conducting a survey on the observation of what happens to the brain of patients suffering from drug-resistant epilepsy through electroencephalographic investigations, brain MRI and behavioural analysis before and after six months of listening to Mozart music (Sonata K.448). The first step is to present the data of the first patient under investigation.

Effectiveness of serotonergic drugs in the management of problem behaviors in patients with neurodevelopmental disorders.

Neurodevelopmental disorders often result in disabilities associated with auto- and / or hetero-aggressive behaviors, that can be defined as "problem behaviors" (Lacy 2007). Therapeutic interventions are mainly directed towards the use of neuroleptic drugs or benzodiazepines, to ensure a rapid and significant sedation in most of cases. These pharmacological devices exposes the patient to clinical risks and/or long-term management difficulties. The main problem of the chronic use of benzodiazepines is the development of tolerance and dependence; furthermore benzodiazepine withdrawal or their abrupt reduction may lead to rebound effect. Regarding the long-term effects of neuroleptics, it is necessary to focus on extrapyramidal effects, motor restlessness and akathisia, anticholinergic effects, as well as endocrine and metabolic alterations. Several studies have shown that the reduction of serotonergic receptor activity is associated with the appearance of aggressive behavior (Farnam et al. 2017), especially impulsive behaviors (Manchia et al. 2017, Takahashi et al. 2012). The dynamics that subtend these data are still not fully clarified, however there are evidences that the use of selective serotonin reuptake inhibitors (SSRI) is helpful in the treatment of aggressive behavior in mental disabilities (Sterke et al. 2012, Janowsky et al. 2015). In this study we observe the behavioral response to sertraline, for minors, and to vortioxetine, for adults, considering that the literature shows significant evidence of modulation of synaptic neuroplasticity (Waller et al. 2017). To support the observation we used behavioural scales to collect the data, before the administration of the drug, during the course of treatment, at 3 months from the start of the administration. We detected the improve of behavioral disorders with the less use neuroleptic drugs and benzodiazepines.

Mozart's music and multidrug-resistant epilepsy: a potential EEG index of therapeutic effectiveness.

Multidrug-resistant epilepsy is a pathological condition that affects approximately one-third of patients with epilepsy, especially those with associated intellectual disabilities. Several non-pharmacological interventions have been proposed to improve quality of life of these patients. In particular, Mozart's sonata for two pianos in D major, K448, has been shown to decrease interictal electroencephalography (EEG) discharges and recurrence of clinical seizures in these patients. In a previous study we observed that in institutionalized subjects with severe/profound intellectual disability and drug-resistant epilepsy, a systematic music listening protocol reduced the frequency of seizures in about 50% of cases. This study aims to assess electroencephalography as a quantitative (qEEG) predictive biomarker of effectiveness of listening to music on the frequency of epileptic discharges and on background rhythm frequency (BRF).

National Survey on bladder and bowel dysfunctions in Autism Spectrum Disorder population.

Introduction: To evaluate lower urinary tract symptoms (LUTS) and bowel disorders in a population of young subjects with autism spectrum disorder (ADS) by a national survey and to assess the relationship between the occurrence, frequency, and type of LUTS and the severity of behavioral and neuropsychiatric characteristics. Materials and methods: A survey on LUTS and bowel disorders in the ASD population was sent by mail and social media through the main Italian Associations of ASD between February and September 2022. The correlation between LUTS and ASD severity was also assessed. Results: The survey was completed by 502 subjects with a mean age of 16.6 years ± 10 years: male participants were 413 (mean age: 16.5 years ± 9.8 years), while female participants 89 (mean age: 17.2 years ± 10.9 years). ADS severity was found low in 29.9%, moderate in 27.1%, and severe in 43%. LUTS were reported by 77.1%, storage symptoms in 51.4%, and voiding symptoms in 60.6%. Urinary incontinence was reported by 12.5%. Enuresis was reported by 14.3% (72/502) of the respondents: primary enuresis in 70.8% (51/72), secondary in the remaining. Pads were used by 40 subjects with a median of 2.9 pads/day (range, 0-8). A toilet training program was performed by 61 of the respondents, with satisfactory results in 40/61 (65.6%). A significant correlation was found between greater ASD severity and higher LUTS rates. The mean VAS score on the impact of LUTS on family relationships was 2 ± 2.9. Regular bowel function was reported by 57.4% (288/502) of the respondents, while increased daily defecations were present in 11.2% (56/502), constipation in 31.5% (158/502), and fecal incontinence in 7.9% (40/502). Conclusion: This survey demonstrated that LUTS are very common in the young ASD population and that the prevalence of urinary symptoms is related to higher severity of the ASD condition. Bowel disorders are often associated with urinary symptoms and dysfunctions. Urologists should be aware of the frequent occurrence of urological disorders and symptoms in individuals with ASD and should be involved in their clinical management in a multidisciplinary team that cares for these people.

Exposure to predator odor and resulting anxiety enhances the expression of the α2 δ subunit of voltage-sensitive calcium channels in the amygdala.

The α2 δ subunit of voltage-sensitive calcium channels (VSCCs) is the molecular target of pregabalin and gabapentin, two drugs marked for the treatment of focal epilepsy, neuropathic pain, and anxiety disorders. Expression of the α2 δ subunit is up-regulated in the dorsal horns of the spinal cord in models of neuropathic pain, suggesting that plastic changes in the α2 δ subunit are associated with pathological states. Here, we examined the expression of the α2 δ-1 subunit in the amygdala, hippocampus, and frontal cortex in the trimethyltiazoline (TMT) mouse model of innate anxiety. TMT is a volatile molecule present in the feces of the rodent predator, red fox. Mice that show a high defensive behavior during TMT exposure developed anxiety-like behavior in the following 72 h, as shown by the light-dark test. Anxiety was associated with an increased expression of the α2 δ-1 subunit of VSCCs in the amygdaloid complex at all times following TMT exposure (4, 24, and 72 h). No changes in the α2 δ-1 protein levels were seen in the hippocampus and frontal cortex of mice exposed to TMT. Pregabalin (30 mg/kg, i.p.) reduced anxiety-like behavior in TMT-exposed mice, but not in control mice. These data offer the first demonstration that the α2 δ-1 subunit of VSCCs undergoes plastic changes in a model of innate anxiety, and supports the use of pregabalin as a disease-dependent drug in the treatment of anxiety disorders.