Non-Pharmacological Treatments in Paediatric Migraine.

Psychological, social, and biological aspects contribute synergistically to the maintenance and chronicity of pain in primary headaches. An integrated intervention seems to be the most appropriate in the management of these conditions, taking advantage not only of pharmacological strategies, but also of different approaches according to the global assessment and patient necessities. In this perspective, non-pharmacological treatments are becoming increasingly used to overcome these issues also in paediatric migraine treatment. Particularly, nutraceuticals, non-invasive neuromodulation, and behavioural approaches are well tolerated and of potential interest. This paper aims to present the main approaches reported in the literature in the management of migraine in children and adolescents presenting an up-to-date review of the current literature. We therefore performed a narrative presentation for each of these three categories: nutraceuticals (riboflavin; magnesium; melatonin; vitamin D; coenzyme Q10; and polyunsaturated fatty acid); non-invasive neuromodulation (trigeminal nerve stimulator; non-invasive vagal nerve stimulation; transcranial magnetic stimulation; and remote electrical neuromodulation), and behavioural therapies (biofeedback; cognitive behavioural therapy; and mindfulness-based therapy). These approaches are increasingly seen as a valid treatment option in primary headache management also in paediatrics, avoiding medication overuse and drug treatment contraindications.

Psychiatric Manifestations in Children and Adolescents with Inherited Metabolic Diseases.

Background: Inherited metabolic disorders (IEMs) can be represented in children and adolescents by psychiatric disorders. The early diagnosis of IEMs is crucial for clinical outcome and treatment. The aim of this review is to analyze the most recurrent and specific psychiatric features related to IEMs in pediatrics, based on the onset type and psychiatric phenotypes. Methods: Following the PRISMA Statement, a systematic literature review was performed using a predefined algorithm to find suitable publications in scientific databases of interest. After removing duplicates and screening titles and abstracts, suitable papers were analyzed and screened for inclusion and exclusion criteria. Finally, the data of interest were retrieved from the remaining articles. Results: The results of this study are reported by type of symptoms onset (acute and chronic) and by possible psychiatric features related to IEMs. Psychiatric phenomenology has been grouped into five main clinical manifestations: mood and anxiety disorders; schizophrenia-spectrum disorders; catatonia; eating disorders; and self-injurious behaviors. Conclusions: The inclusion of a variety of psychiatric manifestations in children and adolescents with different IEMs is a key strength of this study, which allowed us to explore the facets of seemingly different disorders in depth, avoiding possible misdiagnoses, with the related delay of early and appropriate treatments.

Misdiagnosis of functional neurological symptom disorders in paediatrics: Narrative review and relevant case report.

Functional neurological symptom disorders (FNSD) pose a common challenge in clinical practice, particularly in pediatric cases where the clinical phenotypes can be intricate and easily confused with structural disturbances. The frequent coexistence of FNSDs with other medical disorders often results in misdiagnosis. In this review, we highlight the distinctions between FNSD and various psychiatric and neurological conditions. Contrary to the misconception that FNSD is a diagnosis of exclusion, we underscore its nature as a diagnosis of inclusion, contingent upon recognizing specific clinical features. However, our focus is on a critical learning point illustrated by the case of a 14-year-old male initially diagnosed with FNSD, but subsequently found to have a rare primary monogenic movement disorder (paroxysmal kinesigenic dyskinesia, PKD). The crucial takeaway from this case is the importance of avoiding an FNSD diagnosis based solely on psychiatric comorbidity and suppressible symptoms. Instead, clinicians should diligently assess for specific features indicative of FNSD, which were absent in this case. This emphasizes the importance of making a diagnosis of inclusion. Extended follow-up and clinical-oriented genetic testing might help identify comorbidities, prevent misdiagnosis, and guide interventions in complex cases, which cannot be simply classified as "functional" solely because other conditions can be excluded.

Understanding and Avoiding Mistakes in Diagnosing Children with Functional Neurological Symptom Disorders: A Review and Case Report: This article discusses Functional Neurological Symptom Disorders (FNSDs), focusing on misdiagnosis, differential diagnosis, and other diagnostic challenges, particularly in pediatric cases. FNSDs involve motor or sensory symptoms that are inconsistent over time and unexplained by neurological disease, often associated with psychosocial factors. The article highlights the complexity of distinguishing FNSDs from other neurological and psychiatric conditions, emphasizing the importance of careful evaluation. The authors review various conditions that can mimic FNSDs, such as epileptic seizures, syncope, and different motor disorders. They emphasize the need to consider psychiatric conditions in the differential diagnosis, including factitious disorders, and malingering. The article presents a case study of a 14-year-old with involuntary movements, initially diagnosed as having a Functional Movement Disorder. After careful evaluation, the patient was diagnosed with a genetic dystonia (PRRT2 mutation). The case shows the importance of not rely solely on psychological problems, bizarre presentations or suppressible symptoms when diagnosing FNSDs.

Comorbidities and Disease Duration in Tourette Syndrome: Impact on Cognition and Quality of Life of Children.

BACKGROUND: Cognitive functions represent foundational factors for mental health and quality of life (QoL). In Tourette syndrome (TS), psychiatric comorbidities are common and have been inconsistently reported to affect the cognition and QoL of patients, while the role of tic disorder duration has not been yet explored. METHODS: To examine how comorbidities and TS duration may influence cognition and QoL, N = 80 children with TS (6-16 years) were evaluated using the Wechsler Intelligence Scale for Children (WISC-IV). Standardized questionnaires were used to assess the presence and severity of TS main comorbidities and QoL. Data were interpreted using linear correlations, regression, and mediation analysis. RESULTS: Depression and attention-deficit/hyperactivity disorder (ADHD) symptoms accounted for poorer cognitive performance. Anxiety oppositely predicted better cognitive performance, while no significant role for obsessive compulsive disorder (OCD) was observed. Disease duration was associated with lower total IQ, verbal reasoning, and working memory abilities. Depression, anxiety, and TS duration also deeply influenced QoL measures. CONCLUSIONS: TS common comorbidities have a differential impact on the cognitive abilities of children and adolescents, which translates into a complex influence on their perceived QoL. A longer clinical history of tics was related to worse cognitive outcomes, which prompts further consideration of disease duration in both clinical and research settings involving children and adolescents.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations. Fifty-nine individuals presented with BRAT1-related RMFSL phenotype. Most of them had no psychomotor acquisition (100%), epilepsy (100%), microcephaly (91%), limb rigidity (93%), and died prematurely (93%). Thirty-eight individuals presented a non-lethal phenotype of BRAT1-related NEDCAS phenotype. Seventy-six percent of the patients in this group were able to walk and 68% were able to say at least a few words. Most of them had cerebellar ataxia (82%), axial hypotonia (79%) and cerebellar atrophy (100%). Genotype-phenotype correlations in our cohort revealed that biallelic nonsense, frameshift or inframe deletion/insertion variants result in the severe BRAT1-related RMFSL phenotype (46/46; 100%). In contrast, genotypes with at least one missense were more likely associated with NEDCAS (28/34; 82%). The phenotype of patients carrying splice variants was variable: 41% presented with RMFSL (7/17) and 59% with NEDCAS (10/17).

Prolonged Social Withdrawal During Adolescence: Transdiagnostic Syndrome or a New Psychiatric Entity?

The Japanese term Hikikomori is used to describe a clinical condition in which young people present a prolonged social withdrawal and isolation. Hikikomori syndrome represents an emergent worldwide phenomenon but is still poorly reported and often misdiagnosed. This study investigates and describes an Italian hikikomori adolescent group. Socio-demographic and psychopathological profiles and the relationship between hikikomori and psychopathological conditions were analyzed. No gender difference, a medium-high intellectual level, and no correlation with socioeconomic status were highlighted among the clinical group. The relationship between social withdrawal and social anxiety was significant while no correlation was found with depressive symptoms. The presence of Hikikomori syndrome was also significant in Italian adolescents, suggesting that hikikomori is not a culture-bound syndrome related to the Japanese cultural context, but rather a syndrome occurring in the upper-medium class.

Tension-Type Headache in Children and Adolescents.

In pediatric neurology, tension-type headache (TTH) represents a very common type of primary headache during the pediatric age. Despite the high prevalence of TTH, this diagnosis is often underestimated in childhood, with relevant difficulties in the differential diagnosis of TTH from secondary and primary headache manifestations. Even among primary headaches, a clinical overlap is not so infrequent in children: migraine attacks could present tension headache-like features while tension-type headaches may display migraine-like symptoms as well. Several variables play a role in the complex trajectory of headache evolution, such as hormonal changes during adolescence, triggers and genetic and epigenetic factors. The trajectories and outcomes of juvenile migraine and TTH, as well as the transition of one form to the other, have been investigated in several long-term prospective studies. Thus, the aim of this paper is to review the current literature on the differential diagnosis workout of TTH in pediatrics, the possible outcomes during the developmental age and the appropriate therapeutic strategies. Indeed, TTH represents a challenging diagnostic entity in pediatrics, both from a clinical and a therapeutic point of view, in which early diagnosis and appropriate treatment are recommended.

Clinical variability at the mild end of BRAT1-related spectrum: Evidence from two families with genotype-phenotype discordance.

Biallelic mutations in the BRAT1 gene, encoding BRCA1-associated ATM activator 1, result in variable phenotypes, from rigidity and multifocal seizure syndrome, lethal neonatal to neurodevelopmental disorder, and cerebellar atrophy with or without seizures, without obvious genotype-phenotype associations. We describe two families at the mildest end of the spectrum, differing in clinical presentation despite a common genotype at the BRAT1 locus. Two siblings displayed nonprogressive congenital ataxia and shrunken cerebellum on magnetic resonance imaging. A third unrelated patient showed normal neurodevelopment, adolescence-onset seizures, and ataxia, shrunken cerebellum, and ultrastructural abnormalities on skin biopsy, representing the mildest form of NEDCAS hitherto described. Exome sequencing identified the c.638dup and the novel c.1395G>A BRAT1 variants, the latter causing exon 10 skippings. The p53-MCL test revealed normal ATM kinase activity. Our findings broaden the allelic and clinical spectrum of BRAT1-related disease, which should be suspected in presence of nonprogressive cerebellar signs, even without a neurodevelopmental disorder.

Link Between Topographic Memory and the Combined Presentation of ADHD (ADHD-C): A Pilot Study.

Background: Topographic memory is the ability to reach various places by recognizing spatial layouts and getting oriented in familiar environments. It involves several different cognitive abilities, in particular executive functions (EF), such as attention, working memory, and planning. Children with attention deficit hyperactivity disorder (ADHD) show impairments in inhibitory control, regulation of attention, planning, and working memory. Aim: The aim of this study was to evaluate the topographic memory in children with ADHD-combined subtype (ADHD-C). Method: Fifteen children (8-10 years) with a diagnosis of ADHD-C (DSM-5) (ADHD-C group) were compared to 15 children with typical development (TD group) of the same age. All children performed Raven's colored progressive matrices (CPM) test to obtain a measure related with cognitive functioning. The walking Corsi test (WalCT), a large-scale version of the Corsi block-tapping test, was used to assess topographic memory in experimental environment. Results: A higher impairment was observed in ADHD-C than TD with significant differences in the WalCT, in particular on the topographic short-term memory (TSTM) task, on the topographic learning (TL) task, and on the repetition number (RN) task during the TL task. Perseverative errors were reported in performing the square-sequence in the WalCT. Zero-order correlations showed a positive correlation between TSTM and auditory attention, and memory of design of NEPSY-II and digit span of WISC-IV. No statistically significant differences were found between the ADHD-C group and TD group in the TL task in the WalCT condition. Conclusion: In ADHD-C, initial topographic learning was compromised whereas the long-term retention of learned topographical material seemed to not be impaired. In particular, these impairments seem to be linked with difficulties in sustained attention, in spatial memory for novel visual materials, in a poor working memory, and in perseverative behaviors.

Management of Neurological Emergencies in Children: An Updated Overview.

Neurological emergencies account for about one-third of the highest severity codes attributed in emergency pediatric departments. About 75% of children with acute neurological symptoms presents with seizures, headache, or other paroxysmal events. Life-threatening conditions involve a minor proportion of patients (e.g., less than 15% of children with headache and less than 5% of children with febrile seizures). This review highlights updated insights about clinical features, diagnostic workup, and therapeutic management of pediatric neurological emergencies. Particularly, details will be provided about the most recent insights about headache, febrile seizures, status epilepticus, altered levels of consciousness, acute motor impairment, acute movement disorders, and functional disorders, as well as the role of diagnostic tools (e.g., neuroimaging, lumbar puncture, and electroencephalography), in the emergency setting. Moreover, the impact of the current novel coronavirus disease2019 (COVID-19) pandemic on the evaluation of pediatric neurologic emergencies will also be analyzed.

Adverse Mental Health Impact of the COVID-19 Lockdown in Individuals With Tourette Syndrome in Italy: An Online Survey.

During the early stages of the coronavirus disease 2019 (COVID-19) pandemic in Italy, an online survey was launched via a local patient advocacy website to investigate mental health issues in children and adolescents with Tourette syndrome (TS). Respondents were parents, who were asked to report on their child's general health, tics, comorbidities/problems, pharmacological treatment/psychotherapy, symptom variations, and daily routine, as well as on their family's health and work experiences during the pandemic. Two hundred thirty-eight people participated in the survey, 203 females and 35 males. Our findings indicate that, in the time window of 4-6 weeks after the beginning of the COVID-19-related lockdown, 67% of individuals with TS developed a relevant worsening of the overall clinical condition as rated by their parents. An improvement or no variation of the clinical picture was reported in 20.5 and 6.7% of cases, respectively. Most worsened symptoms included tics, hyperactivity, rage attacks, obsessions/compulsions, and anxiety. Of the subjects experiencing a clinical worsening, the majority (51.76%) showed variations across two to five symptom domains. No association was found between symptom variation and family demographics or health and economic issues specifically related to the lockdown. The current COVID-19 pandemic is exerting a considerable impact on the mental health of young individuals with TS by worsening both tics and emotional and behavioral symptoms.

Anti-dopamine D2 receptor antibodies in chronic tic disorders.

AIM: To investigate the association between circulating anti-dopamine D2 receptor (D2R) autoantibodies and the exacerbation of tics in children with chronic tic disorders (CTDs). METHOD: One hundred and thirty-seven children with CTDs (108 males, 29 females; mean age [SD] 10y 0mo [2y 7mo], range 4-16y) were recruited over 18 months. Patients were assessed at baseline, at tic exacerbation, and at 2 months after exacerbation. Serum anti-D2R antibodies were evaluated using a cell-based assay and blinded immunofluorescence microscopy scoring was performed by two raters. The association between visit type and presence of anti-D2R antibodies was measured with McNemar's test and repeated-measure logistic regression models, adjusting for potential demographic and clinical confounders. RESULTS: At exacerbation, 11 (8%) participants became anti-D2R-positive ('early peri-exacerbation seroconverters'), and nine (6.6%) became anti-D2R-positive at post-exacerbation ('late peri-exacerbation seroconverters'). The anti-D2R antibodies were significantly associated with exacerbations when compared to baseline (McNemar's odds ratio=11, p=0.003) and conditional logistic regression confirmed this association (Z=3.49, p<0.001) after adjustment for demographic and clinical data and use of psychotropic drugs. INTERPRETATION: There is a potential association between immune mechanisms and the severity course of tics in adolescents with CTDs.

The Relationship Between Parental Care and Pain in Children With Headache: A Narrative Review.

PURPOSE: In migraine or primary headache in children, parents play a fundamental role in pain management. For this narrative review, PubMed, Google Scholar, and Psych Info were searched using the terms "parent headache", "mother/father headache", "parental impact headache", "alexithymia parents headache", "catastrophizing parent headache", "family headache", "children parent headache", and "quality of life family headache". Articles were chosen for inclusion based on their relevance in to the topic. OVERVIEW: Several parental and psychological characteristics can influence in children and adolescent headache, such as parental attitudes as oppressive or overprotective; punitive parenting styles; familial psychological symptoms, especially anxiety and depression; catastrophizing about their child's pain or excessive worry about their child's headache; inability to express emotions; and feelings that may lead to somatization problems. DISCUSSION: Parents' attitudes and behaviors toward their child's headache have a strong relation with the severity of headache attacks. Mothers seem to have more influence than fathers on children's pain and emotional regulation. We suggest that the presence of caregiver-child transmission of maladaptive coping strategies, arising from difficulties expressing emotion, may lead to incorrect management of headache pain, further facilitating headache chronification.

Behavioral therapies in headache: focus on mindfulness and cognitive behavioral therapy in children and adolescents.

Introduction: A wide proportion of children and adolescents with headache tends not to respond to various pharmacological treatments in use. The failure to respond to symptomatic treatment and prophylaxis is often due to the presence of a comorbid psychopathology undiagnosed or not properly treated. For these reasons and for the negative impact of headache on the quality of life of the patients and on the costs for the public health system, the adoption of an integrated multi-disciplinary perspective in the diagnosis and treatment of headache is needed.Areas covered: Several researchers have shown that behavioral treatment is effective as pharmacological treatment, not only for headache management but also to maintain a lifetime response to the headache treatment. In particular, Cognitive Behavioral Therapy (CBT) and Mindfulness have proven to be very resolutive both in the management of pain and in the management of stressful situations that can trigger the headache in children and adolescents with headache.Expert opinion: Although studies on behavioral treatments on children and adolescents with primary headaches are still few but a combined approach seems to be very useful in improving the quality of life of these subjects, especially in those who have internalizing disorders in comorbidities.

Developmental Motor Profile in Preschool Children with Primary Stereotypic Movement Disorder.

AIM: Different neuropsychological dysfunctions have been described in children with primary Stereotypic Movement Disorder (SMD), mainly attention or motor coordination problems. Up to now with no study has evaluated psychomotor functions in preschoolers primary SMD. The aim of this observational study was to gather information on the motor profiles of SMD patients in this age range in comparison with typically developing children. PATIENTS AND METHODS: Twenty-six children (four girls) aged 36 to 76 months (mean= 53 ±10) with primary SMD were assessed by a structured evaluation including the Movement Assessment Battery for Children-Second Edition (MABC-2), the Beery-Buktenica Developmental test of Visual-Motor Integration (VMI), the Repetitive Behaviour Scale-Revised (RBS-R), the Motor Severity Stereotypy Scale (MSSS), and the Child Behaviour Checklist (CBCL). The diagnoses of Intellectual Disability or Autism Spectrum Disorder were exclusion criteria from the study. A comparison group of twenty-seven (four girls) typically developing children without stereotypies aged 36 to 59 months (mean= 48 ±7) was also examined. RESULTS: The MABC-2 total score was lower than 15th percentile in fifteen children with SMD (58%); the worst performances were observed in Balance and Manual Dexterity subtests. The motor coordination score of VMI was lower than 15th percentile in ten children (38%). The majority of the children with low scores at MABC-2 also had low scores at the motor coordination subscale of VMI. MABC-2 standard scores of the clinical group were significantly lower than those of controls on MABC-2 Total, Balance, and Ball Skills subtests. CONCLUSION: The finding of widespread dysfunction of gross and fine motor abilities in preschoolers with primary SMD seems to delineate a peculiar phenotype and could provide new approaches to the management of this neurodevelopment disorder.

Self-concept and self-esteem in patients with chronic tic disorders: A systematic literature review.

Chronic tic disorders are neurodevelopmental conditions characterized by the presence of motor and/or phonic tics and often accompanied by co-morbid behavioral problems. Chronic tic disorders can negatively affect the level of functioning of young patients across social and family domains, with possible repercussions on their self-perception. We conducted a systematic literature review to assess the clinical correlates of both components of self-perception (self-concept, i.e. what patients think about themselves, and self-esteem, i.e. how they feel about their self-concept) in patients with chronic tic disorders. Reported levels of self-perception varied widely across studies, partly due to the methodological heterogeneity of the reviewed literature. Poor self-concept and self-esteem appeared to be more strongly related to the presence of psychiatric co-morbidities (especially obsessive-compulsive disorder, attention-deficit and hyperactivity disorder, and anxiety disorders) than to tic severity. Poor peer relationship, social difficulties, as well as problems with parents' acceptance were identified as further risk factors for low self-perception. Finally, the reviewed studies highlighted a link between self-perception and quality of life in patients with chronic tic disorders, alongside the protective role of good social adjustment. This information can therefore assist treating clinicians in the choice of tailored therapeutic interventions for this patient population, including behavioral management techniques that can improve self-concept and self-esteem through increased self-efficacy.

Don't Judge a Book by Its Cover: Factitious Disorder Imposed on Children-Report on 2 Cases.

Factitious Disorder Imposed on Another (FDIA), also known as Munchausen Syndrome by Proxy (MSbP) is a very serious form of child abuse. The perpetrator, usually the mother, invents symptoms or causes real ones in order to make her child appear sick. Usually this is due to a maladaptive disorder or to an excessive of attention-seeking on her part. We report here two new cases of FDIA. The first one is a 9-year-old boy with a history of convulsive episodes, reduced verbal production, mild psychomotor disorder and urological problems who underwent several invasive procedures and hospitalizations before a diagnosis of FDIA was made. The second is a 12 year-old girl with headache, abdominal pain, lipothymic episodes, seizures and a gait impairment, who was hospitalized in several hospitals before an FDIA was diagnosed.

Inhibition is impaired in children with obsessive-compulsive symptoms but not in those with tics.

BACKGROUND: Impaired inhibitory control is thought to be a core deficit in psychiatric disorders where patients exhibit problems with controlling urges. These problems include the urge to perform movements typical of Tourette syndrome and the urge to execute compulsive actions typical of obsessive-compulsive disorder. However, the picture emerging from studies that address this issue is controversial. Furthermore, most studies have only focused on reactive control (the ability of subjects to react to a stop signal), but not on proactive control (the ability of patients to shape their response strategies in anticipation of known task demands). OBJECTIVES: We assessed reactive and proactive inhibitory control in drug naïve children/adolescents affected by Tourette syndrome, obsessive-compulsive disorder, and in those in which the 2 disorders co-occur. METHODS: Reaching version of the stop signal task and of a simple reaction time task were given to 37 unmedicated patients (mean age ± SD, 11.0 ± 2.3) and to 37 healthy age- and gender-matched controls (mean age ± SD, 10.8 ± 1.6). RESULTS: Both reactive and proactive inhibition scaled with the severity of obsessive-compulsive symptoms, but not with those of tic symptoms (ie, inhibitory control in uncomplicated Tourette patients was comparable with that of healthy controls). CONCLUSIONS: We suggest that the cognitive mechanisms underlying tics and compulsions controls are likely to be different. Possibly the preserved ability to suppress actions in uncomplicated Tourette patients allows them to experience a greater feeling of self-control, and this fact might play a key role in evolution of the disorder beyond adolescence. © 2018 International Parkinson and Movement Disorder Society.

A preliminary examination of self-concept in older adolescents and young adults with Gilles de la Tourette syndrome.

INTRODUCTION: Gilles de la Tourette syndrome (GTS) is a childhood-onset neuropsychiatric disorder characterised by multiple tics and often associated with behavioural problems. Although there is evidence of significantly reduced self-esteem in children and adolescents with GTS, little is known about perceived self-concept and its clinical determinants at the transition age between adolescence and adulthood. We therefore set out to investigate self-concept in a clinical sample of young patients with GTS at this crucial age for personal development. METHODS: In addition to standard demographic and clinical data, we collected self-ratings using a standardised battery of psychometric instruments, as well as the Multidimensional Self Concept Scale, a comprehensive questionnaire developed to assess self-concept in subjects aged 9- to 19 years, tapping into the social, competence, affect, academic, family, and physical domains. RESULTS: We found that patients diagnosed with at least one co-morbid psychiatric disorder ("GTS-plus" phenotype) reported significantly lower self-concept than patients with "pure GTS", whereas tic-related variables had no impact on self-concept. Anxiety symptoms were the main determinants of self-concept, especially trait anxiety with regard to social and affective domains. Affective symptoms could also have a negative impact on the physical, affective, competence, and social domains of self-concept. CONCLUSION: Routine screening for anxiety and affective symptoms should be recommended in all patients with GTS seen at transition clinics from paediatric to adult care, in order to implement effective treatment interventions whenever possible.

Developmental Profile and Diagnoses in Children Presenting with Motor Stereotypies.

INTRODUCTION: Motor stereotypies represent a typical example of the difficulty in distinguishing non-clinical behaviors (physiological and transient) from symptoms or among different disorders ["primary stereotypies," associated with autistic spectrum disorder (ASD), intellectual disabilities, genetic syndromes, and sensory impairment]. The aim of this study was to obtain an accurate assessment on the relationship between stereotypies and neurodevelopmental disorders. METHODS: We studied 23 children (3 girls), aged 36-95 months, who requested a consultation due to the persistence or increased severity of motor stereotypies. None of the patients had a previous diagnosis of ASD. The assessment included the Motor Severity Stereotypy Scale (MSSS), the Repetitive Behavior Scale-Revised (RBS-R), the Raven's Colored Progressive Matrices, the Child Behavior CheckList for ages 1½-5 or 4-18 (CBCL), the Social Responsiveness Scale (SRS), and the Autism Diagnostic Observation Schedule-second edition (ADOS 2). RESULTS: All patients were showing motor stereotypies for periods of time varying from 6 to 77 months. The MSSS showed that each child had a limited number of stereotypies; their frequency and intensity were mild. The interference of stereotypies was variable; the impairment in daily life was mild. The RBS-R scores were positive for the subscale of "stereotypic behaviors" in all children. Moreover, several children presented other repetitive behaviors, mainly "ritualistic behavior" and "sameness behavior." All patients showed a normal cognitive level. The CBCL evidenced behavioral problems in 22% of the children: internalizing problems, attention, and withdrawn were the main complaints. On the SRS, all but one of the tested patients obtained clinical scores in the clinical range for at least one area. On the ADOS 2, 4 patients obtained scores indicating a moderate level of ASD symptoms, 4 had a mild level, and 15 showed no or minimal signs of ASD. DISCUSSION: Motor stereotypies in children with normal cognitive level represent a challenging diagnostic issue for which a finely tailored assessment is mandatory in order to define a precise developmental profile. Thus, careful and cautious use of standardized tests is warranted to avoid misdiagnosis. Furthermore, it is hard to consider motor stereotypies, even the primary ones, exclusively as a movement disorder.