Frosted Intellectuals: How Dr. Leo Kanner Constructed the Autistic Family.

Dr. Leo Kanner, in his delineation of autism as a clinical entity, is also remembered for having created a powerful stereotype of parents of autistic children as highly educated, intelligent, and emotionally distant. As historians have come to understand that autism arose out of a preceding diagnosis, childhood schizophrenia, it has also become clear that the so-called "refrigerator mother" caricature arose out of the preceding notion of the cold "schizophrenogenic" mother. However, this does not explain Kanner's belief that parents (fathers as well as mothers) were highly educated and intelligent. This study is the first to compare Kanner's famous published case studies with case records of his patients in the Phipps Clinic at Johns Hopkins in order to discover how this stereotype was created. Contrary to his assertion in the published literature, Kanner did indeed see patients with autism whose parents who did not fit his stereotype, but he did not publish these cases. Kanner's stereotype of the "autistic parent" thus seems to have arisen through a process of confirmation bias. This continues to have ramifications to the present day, by linking autism in the popular mind to highly educated and professional parents, and by leading patients with nonstereotypical patients to go unrecognized.

[Behavior disorders in the childhood and adolescence of schizophrenic patients: A retrospective study]. / Les troubles de comportement durant l'enfance et l'adolescence des schizophrènes : étude rétrospective.

OBJECTIVE: Usually Schizophrenia starts in late adolescence or early adulthood. However in childhood it is associated with significant impairment. The aim of this study is to investigate behavior disorders of schizophrenic patients in this particular period of life, and whether the presence of these disorders leads to predict a subsequent development of schizophrenia. METHODS: Our study is retrospective, about a group of patients with schizophrenia, conducted in the university department of psychiatry of Fez. The study of the behavior of our patients during their childhood and adolescence is based on interviews with the parents of the subjects. We also used the teen version of the Child Behavior Cheklist 4-18 (CBCL). RESULTS: The sample included a total of 100 patients with a schizophrenia disorder, of which 80 were male, the average age was 25.36±-3.54 years. According to parents, 60 % of our patients were shy and too wise; a third of them had a preference for solitary games, and they were disobedient at home and school, frequently fighting, breaking the laws, taking drugs. Finally 20 % were very aggressive, attacking and hitting others - they even destroyed their personal possessions - and had run away from home. The average CBCL score was 41.69±-26,397, with 47 % above the threshold. Several factors were significantly related to a high CBCL score: gender, early age of onset of schizophrenia, and a traumatic event in childhood. CONCLUSION: Childhood and adolescence are characterized by the presence of many symptoms and behavior disorders. Although they are not very specific, their presence should alert the clinician to the significant probability of developing schizophrenia, especially in a risky population.

Psychosis in a Patient with Davidoff-Dyke-Masson Syndrome.

OBJECTIVES: To report the finding of psychosis in a patient with Davidoff-Dyke-Masson Syndrome. METHOD: Case report. CONCLUSIONS: Right-sided hemiatrophy may be an addition to the list of neuro-developmental and structural cerebral anomalies associated with psychotic disorders including schizophrenia.

[Hallucinations: Etiological analysis of children admitted to a pediatric emergency department]. / Hallucinations : analyse étiologique chez des enfants admis en service d'accueil des urgences.

Children's hallucinations pose the dual challenge of diagnosing a possible medical emergency and a possible psychiatric disorder. PURPOSE: The main objective was to analyze the causes of such hallucinations in children presenting to a pediatric emergency department. MATERIAL AND METHODS: We conducted a single-center, observational, retrospective study including all children aged less than 15 years experiencing hallucinations and admitted to our tertiary level pediatric emergency department between 1 January 2007 and 31 December 2015. The data collected were demographic; medical: previous medical or psychiatric history, current medications, associated clinical or psychiatric symptoms, type and character of hallucinations, length and recurrence of hallucinatory phenomena; and other biological, radiological and neurological explorations. RESULTS: Sixty-eight patients were included (29 boys). The mean age was 9.1±3 years (range, 2-14 years and 10 months; median, 9.2 years). Admissions were seasonal with a bimodal distribution (a peak during springtime and another one during fall). Hallucinations were mainly visual (90%), acute (77%) and complex (63%). Visual hallucinations were associated with other types of hallucinations: auditory (n=17), somatosensory (n=7). Fifteen children had a psychiatric history and had already experienced hallucinatory phenomena (93%). Among 47 patients (69%), these hallucinations were associated with other symptoms: agitation (41%), headaches (28%), hyperthermia (21%) and negative symptoms of the schizophrenia spectrum (15%). On admission, 20 patients (29%) had one or more treatments under way (34 drugs, 41% known for hallucinogenic adverse effects). Neurological explorations were undertaken in half of the cases. Toxicological analysis prescribed in 19 children was positive in five cases (26%). Fifty-three percent of patients were hospitalized and 51 children received a specialized follow-up (by a neurologist and/or a psychiatrist). A nonpsychiatric origin of these hallucinations was diagnosed in 29 patients (43%): neurological causes (n=10), infectious diseases (n=10), intoxications (n=5) and a medication side effect (n=4). CONCLUSION: Hallucinations with a suspected underlying psychiatric cause differed on several factors: chronic duration (p=0.02), an onset after 10 years of age (p=0.004), previous identical episodes (p=0.014) and a parental psychiatric history (p=0.036), auditory hallucinations (p=0.0009), absence of fever (p=0.005), headaches (p=0.036) and the presence of negative symptoms of the schizophrenic spectrum (p=0.02).

Schizophrenia risk alleles and neurodevelopmental outcomes in childhood: a population-based cohort study.

BACKGROUND: Schizophrenia typically onsets after puberty but is often preceded by observable childhood neurodevelopmental impairments. Whether these childhood antecedents index genetic liability is unknown. We used polygenic risk scores derived from a patient discovery sample as indicators of the genetic liability of schizophrenia. Our aim was to identify the early childhood manifestations of this liability in a UK population-based cohort. METHODS: The study sample was the Avon Longitudinal Study of Parents and Children, a prospective population-based cohort study of 14701 children. Data were primarily analysed with regression-based analyses. Polygenic risk score were generated from a published Psychiatric Genomics Consortium genome-wide association study. Outcomes were childhood (age 4-9 years) dimensional measures in four developmental domains with 12 indicators: cognition and learning, social and communication, emotion and mood regulation, and behaviour (n=5100-6952). FINDINGS: At age 7-9 years, schizophrenia polygenic risk scores showed associations with lower performance intelligence quotient (ß -0·056, OR 1·13 [95% CI 1·04-1·23]), poorer social understanding (ß -0·032, OR 1·08 [1·00-1·17]), worse language intelligibility and fluency (ß -0·032, OR 1·10 [1·02-1·20]), more irritability (ß 0·032, OR 1·07 [1·01-1·14]), and more headstrong behaviour (ß 0·031, OR 1·08 [1·02-1·15]). The schizophrenia polygenic risk scores also predicted social and behavioural impairments as early as age 4 years. INTERPRETATION: Childhood cognitive, social, behavioural, and emotional impairments, implicated as antecedents to schizophrenia in high-risk, developmental studies, might represent early manifestations of genetic liability. FUNDING: Medical Research Council.

Clinical Characteristics and Predictors of Outcome of Schizophrenia-Spectrum Psychosis in Children and Adolescents: A Systematic Review.

OBJECTIVE: Treatment of early-onset schizophrenia spectrum psychosis (EOS) is hampered by limited data on clinical presentation and illness course. We aimed to systematically review the clinical characteristics, diagnostic trajectories, and predictors of illness severity and outcomes of EOS. METHODS: We conducted a systematic PubMed, PsycINFO, and Embase literature review including studies published from January 1, 1990 to August 8, 2014 of EOS patients with 1) ≥50% nonaffective psychosis cases; 2) mean age of subjects <19 years; 3) clinical samples recruited through mental health services; 4) cross-sectional or prospective design; 5) ≥20 participants at baseline; 6) standardized/validated diagnostic instruments; and 7) quantitative psychotic symptom frequency or severity data. Exploratory analyses assessed associations among relevant clinical variables. RESULTS: Across 35 studies covering 28 independent samples (n = 1506, age = 15.6 years, age at illness onset = 14.5 years, males = 62.3%, schizophrenia-spectrum disorders = 89.0%), the most frequent psychotic symptoms were auditory hallucinations (81.9%), delusions (77.5%; mainly persecutory [48.5%], referential [35.1%], and grandiose [25.5%]), thought disorder (65.5%), bizarre/disorganized behavior (52.8%), and flat or blunted affect/negative symptoms (52.3%/50.4%). Mean baseline Positive and Negative Syndrome Scale (PANSS)-total, positive, and negative symptom scores were 84.5 ± 10.9, 19.3 ± 4.4 and 20.8 ± 2.9. Mean baseline Clinical Global Impressions-Severity and Children's Global Assessment Scale/Global Assessment of Functioning (CGAS/GAF) scores were 5.0 ± 0.7 and 35.5 ± 9.1. Comorbidity was frequent, particularly posttraumatic stress disorder (34.3%), attention-deficit/hyperactivity and/or disruptive behavior disorders (33.5%), and substance abuse/dependence (32.0%). Longer duration of untreated psychosis (DUP) predicted less CGAS/GAF improvement (p < 0.0001), and poor premorbid adjustment and a diagnosis of schizophrenia predicted less PANSS negative symptom improvement (p = 0.0048) at follow-up. Five studies directly comparing early-onset with adult-onset psychosis found longer DUP in EOP samples (18.7 ± 6.2 vs. 5.4 ± 3.1 months, p = 0.0027). CONCLUSIONS: EOS patients suffer substantial impairment from significant levels of positive and negative symptoms. Although symptoms and functioning improve significantly over time, pre-/and comorbid conditions are frequent, and longer DUP and poorer premorbid adjustment is associated with poorer illness outcome.

15q13.3 duplication in two patients with childhood-onset schizophrenia.

We report two cases of paternally inherited 15q13.3 duplications in carriers diagnosed with childhood-onset schizophrenia (COS), a rare neurodevelopmental disorder of proposed polygenic origin with onset in children before age 13. This study documents that the 15q13.3 deletion and duplication exhibit pathogenicity for COS, with both copy number variants (CNVs) sharing a disrupted CHRNA7 gene. CHRNA7 encodes the neuronal alpha7 nicotinic acetylcholine receptor (α7nAChR) and is a candidate gene that has been suggested as a pathophysiological process mediating adult-onset schizophrenia (AOS) and other neurodevelopmental disorders. These results support the incomplete penetrance and variable expressivity of this CNV and represent the first report of 15q13.3 duplication carriers exhibiting COS. Published 2016. This article is a U.S. Government work and is in the public domain in the USA. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics published by Wiley Periodicals, Inc.

Strong Treatment Response and High Maintenance Rates of Clozapine in Childhood-Onset Schizophrenia.

OBJECTIVE: Childhood-onset schizophrenia (COS) is a rare but severe form of the disorder, which is often treatment refractory. Short-term studies have indicated a greater differential efficacy, evident through effect sizes, favoring clozapine over other agents in alleviating negative symptoms in COS patients compared with adult-onset patients (AOS). There have been no data for COS patients on long-term compliance with clozapine treatment. Therefore, we wanted to know, over a span of up to 24 years, how many of our COS cohort had remained on clozapine for at least 2 years. We review short-term treatment data and present updated long-term data on compliance and functioning for our patients. METHODS: We present the results for long-term medication maintenance over a 24 year observation period for our cohort of 131 patients. Of this cohort, 91.6% (120) were available for follow-up information from either in-person or telephone contact with the patient and/or family members. We defined clozapine compliance as ≥2 years receiving this medication and doing well. RESULTS: We were able to contact 120 of the 131 patients. In spite of the additional cost and inconvenience of regular blood monitoring, 87 patients (72.5%, 87/120) adhered to long-term clozapine maintenance therapy with dosages ranging from 50 to 900 mg, and a median dosage of 500 mg. This rate exceeds the long-term clozapine maintenance rates reported for AOS patients. CONCLUSIONS: Short-term data on differential efficacy and long-term maintenance data suggest a possibly greater efficacy of clozapine, relative to other antipsychotics, in COS than in AOS. Our overall findings indicate that very early-onset schizophrenic patients may be more responsive to clozapine. This extends other support for clozapine as an option in the treatment of early-onset schizophrenia.

Disrupted sensorimotor and social-cognitive networks underlie symptoms in childhood-onset schizophrenia.

Schizophrenia is increasingly recognized as a neurodevelopmental disorder with altered connectivity among brain networks. In the current study we examined large-scale network interactions in childhood-onset schizophrenia, a severe form of the disease with salient genetic and neurobiological abnormalities. Using a data-driven analysis of resting-state functional magnetic resonance imaging fluctuations, we characterized data from 19 patients with schizophrenia and 26 typically developing controls, group matched for age, sex, handedness, and magnitude of head motion during scanning. This approach identified 26 regions with decreased functional correlations in schizophrenia compared to controls. These regions were found to organize into two function-related networks, the first with regions associated with social and higher-level cognitive processing, and the second with regions involved in somatosensory and motor processing. Analyses of across- and within-network regional interactions revealed pronounced across-network decreases in functional connectivity in the schizophrenia group, as well as a set of across-network relationships with overall negative coupling indicating competitive or opponent network dynamics. Critically, across-network decreases in functional connectivity in schizophrenia predicted the severity of positive symptoms in the disorder, such as hallucinations and delusions. By contrast, decreases in functional connectivity within the social-cognitive network of regions predicted the severity of negative symptoms, such as impoverished speech and flattened affect. These results point toward the role that abnormal integration of sensorimotor and social-cognitive processing may play in the pathophysiology and symptomatology of schizophrenia.

Childhood-onset schizophrenia: the challenge of diagnosis.

During the past two decades, the Child Psychiatry Branch at the National Institute of Mental Health has conducted a longitudinal study (including long-term prospective follow-up) of childhood-onset schizophrenia, a rare form of the disorder. Critical to this research has been accurate diagnosis. Outpatient screening has accurately diagnosed 55% of the 121 childhood-onset schizophrenia patients in the study to date. However, inpatient observation including drug-free observation has proven crucial to ruling out 96 children with alternative diagnoses who had been provisionally admitted for inpatient study. Standardized clinical ratings from outpatient screening only predicted 62% of these nonschizophrenia patients. Historically, medication-free observation was standard clinical care for difficult and unusual patients; this should be employed when possible in similar situations.

Personal reflections on observational and experimental research approaches to childhood psychopathology.

The past 50 years have seen dramatic changes in childhood psychopathology research. The goal of this overview is to contrast observational and experimental research approaches; both have grown more complex such that the boundary between these approaches may be blurred. Both are essential. Landmark observational studies with long-term follow-up (Robins, 1966; Yarrow, Campbell, & Burton, 1970) have had - and continue to have - unique impact on clinical research and practice. Epidemiological studies showed high rates of psychological disorder and their close tie to neurological impairment (Rutter, Tizard, & Whitemore, 1970). These studies have current impact with respect to brain imaging correlates of clinical outcome. Pharmacological studies, particularly those on stimulants and on treatment of pediatric obsessive compulsive disorder (OCD), have propelled experimental methodology and inspired translational approaches. Predicted future trends are: more informed subgrouping of our heterogeneous phenotypes, reliance on multicenter trials, and documentation of non-conventional methods of care delivery.

Schedule for affective disorders and schizophrenia for school-age children (K-SADS-PL) for the assessment of preschool children--a preliminary psychometric study.

OBJECTIVE: To assess the psychometrics of the schedule for affective disorders and schizophrenia for school-age children present and lifetime version (K-SADS-PL) in diagnosing DSM-IV psychiatric disorders and subsyndromal symptomatology in preschool children. METHOD: Parents were interviewed about their children using the K-SADS-PL, and they completed the early childhood inventory-4 (ECI-4) and child behavior checklist for ages 1(1/2)-5 years (CBCL). Discriminant, divergent, and convergent validity of the K-SADS-PL were evaluated in 204 offspring ages 2-5 years old of parents from an ongoing study. Inter-rater reliability as well as predictive validity of intake diagnoses at second assessment approximately two years after intake were evaluated. Fourteen children were also assessed by the preschool age psychiatric assessment (PAPA). RESULTS: Children who were diagnosed with oppositional defiant disorder, attention deficit hyperactivity disorder, anxiety, mood, or elimination disorders had significantly higher scores on the ECI-4 than children without these disorders. Significant correlations were found for all convergent CBCL scales. Divergent validity was acceptable for emotional disorders. Inter-rater kappa coefficients for all diagnoses were good. Above noted results were similar for children with at least one positive K-SADS-PL key screen symptom. A significantly higher percentage of children with an intake diagnosis had a diagnosis approximately two years after intake compared to those without an intake disorder. Overall, there was consistency between the PAPA and the K-SADS-PL. CONCLUSIONS: Pending further testing, the K-SADS-PL may prove useful for the assessment of psychopathology in preschoolers.

Manejo del paciente autista en el consultorio odontológico / Management of the autistic patient during a dental care visit

La cavidad oral es la puerta de entrada tanto de nutrientes como de enfermedades e infecciones, en pacientes que tienen algún tipo de discapacidad es aun mßs importante mantener una buena salud oral que determine una mejor salud general. El Autismo es un Síndrome no una enfermedad, en la gran mayoría de los casos congénito, que afecta las relaciones sociales y afectivas así como la capacidad de comunicación de los individuos. Los profesionales que trabajemos alrededor de el tendremos la importante misión de darle una mejor calidad de vida. Para lograr esto es indispensable que el profesional se informe sobre el síndrome, sus características, sus antecedentes, etc. para así poder tratar a cada individuo como único, ya que en este tipo de pacientes descubriremos que no existe un caso igual a otro y deberemos adecuarnos a cada uno en particular, utilizando todos los recursos de los que podamos valernos para lograr resultados positivos. El manejo Psicológico debe realizarse desde la primera sesión y no dejar de hacerse hasta la última, debemos tener en consideración los datos consignados en la historia clinica, mantener contacto permanente con el o los médicos que tratan al paciente así como conel terapeuta físico, del lenguaje u ocupacional dependiendo de cada caso. El paciente autista debe familiarizarse con el profesional, el staff del consultorio, los colores, olores y ruidos propios del ambiente odontológico, debemos recordar que este tipo de pacientes son muy susceptibles a cambios de cualquier tipo a pesar de que en muchos casos pueden parecer abstraídos en su propio mundo 3. Es por esto que nuestro abordaje debe ser realizado de afuera hacia adentro, nunca acercarnos directamente a la cavidad oral e ir avanzando de acuerdo a como el paciente reaccione ante cada uno de nuestros movimientos.

The oral cavity is the main entrance for nutrients as well as for illness and infections, in patients who have any type of disability it is extremely important to maintain a good oral health which will determine a good general health. Autism is a syndrome, not an illness, most of the times congenital and which interferes with social and affective relations as well as the person communication. As Dental Care providers we all have the responsibility to improve their life condition into a better one. It is very important for Dental Care Providers to be appropriate informed about this syndrome, it will be the only way to treat each patient as a unique person because we will learn and notice that every case is different and each patient will need to be treated with all the medical resources as possible to obtain a positive result. The patient psychological management needs to be treated since the first visit, all the patient medical history and information is essential and will be considered for the treatment. Keep in touch with the patient's general care provider as well as the physical or the speech therapist depending on each case. It will help for a better understanding of the patient needs. The autistic patient needs to be involved and comfortable with the medical provider and office staff, the space, colours and noises to be found the dental office. Remember that, this type of patient is extremely sensitive to any changes surrounding, although they may look totally inside of their own world. This is why we will need to approach to the patient from the outside to the inside, never go directly to their oral cavity; all movements and actions will need to be done depending on the patient's reaction.

Cortical brain development in schizophrenia: insights from neuroimaging studies in childhood-onset schizophrenia.

Childhood-onset schizophrenia (COS; defined as onset by age 12 years) is rare, difficult to diagnose, and represents a severe and chronic phenotype of the adult-onset illness. A study of childhood-onset psychoses has been ongoing at the National Institute of Mental Health (NIMH) since 1990, where children with COS and severe atypical psychoses (provisionally labeled "multidimensionally impaired" or MDI by the NIMH team) are studied prospectively along with all first-degree relatives. COS subjects have robust cortical gray matter (GM) loss during adolescence, which appears to be an exaggeration of the normal cortical GM developmental pattern and eventually mimics the pattern seen in adult-onset cases as the children become young adults. These cortical GM changes in COS are diagnostically specific and seemingly unrelated to the effects of medications. Furthermore, the cortical GM loss is also shared by healthy full siblings of COS probands suggesting a genetic influence on the abnormal brain development.

Schizophrenic-like neurocognitive deficits in children and adolescents with 22q11 deletion syndrome.

22q11.2 Deletion Syndrome (22q11DS) is the most common genetic microdeletion syndrome affecting humans. The syndrome is associated with general cognitive impairments and specific deficits in visual-spatial ability, non-verbal reasoning, and planning skills. 22q11DS is also associated with behavioral and psychiatric abnormalities, including a markedly elevated risk for schizophrenia. Research findings indicate that people with schizophrenia, as well as those identified as schizoptypic, show specific cognitive deficits in the areas of sustained attention, executive functioning, and verbal working memory. The present study examined such schizophrenic-like cognitive deficits in children and adolescents with 22q11DS (n = 26) and controls (n = 25) using a cross-sectional design. As hypothesized, 22q11DS participants exhibited deficits in intelligence, achievement, sustained attention, executive functioning, and verbal working memory compared to controls. Furthermore, deficits in attention and executive functioning were more pronounced in the 22q11DS sample relative to general cognitive impairment. These findings suggest that the same pattern of neuropsychological impairment seen in patients with schizophrenia is present in non-psychotic children identified as at-risk for the development of schizophrenia based on a known genetic risk marker.

Childhood-onset schizotypal disorder: a follow-up study and comparison with childhood-onset schizophrenia.

OBJECTIVE: This paper presents results from the UCLA Follow-Up Study of Childhood-Onset Schizophrenia (SZ) Spectrum Disorders. METHOD: We assessed 12 children with schizotypal personality disorder (SPD) and 18 children with schizophrenia 1-7 years following initial project intake. RESULTS: There was significant continuity between SZ spectrum disorders in childhood and adolescence. Although not all children who presented initially with SZ spectrum disorders continued to meet criteria for SZ spectrum disorder as they progressed through the follow-up period, rates of SZ spectrum disorders ranged from 75% to 92% across the 3 follow-up years for children initially presenting with SPD, and from 78% to 89% for children initially presenting with SZ. CONCLUSION: The most common clinical outcome for children with SPD was continuing SPD, supporting the hypothesis of continuity between childhood and later SPD. However, 25% of the SPD sample developed more severe SZ spectrum disorders (schizophrenia or schizoaffective disorder), also supporting the hypothesis that SPD represents a risk or precursor state for more severe SZ spectrum disorders.

IQ stabilization in childhood-onset schizophrenia.

OBJECTIVE: To examine the long term IQ trajectory for childhood-onset schizophrenia (COS) in an expanded, prospective longitudinal study. METHODS: Seventy children meeting DSM criteria for schizophrenia were tested at 2 year intervals with age appropriate Wechsler intelligence tests and repeated administration of information and comprehension WISC subtests even after age 18. For a subgroup with 31 patients, pre-NIH IQ test administrations were available including 18 pre-psychotic and 13 post-psychotic subjects. The pattern of IQ performance over time was determined using mixed model regression analysis. RESULTS: No progressive cognitive decline was seen up to 13+ years post psychosis onset. For the subgroup of subjects with pre-illness scores, there had been an initial steep decline in IQ, from about 2 years prior to 1.7 years after onset of psychotic symptoms, as reported for adult patients. CONCLUSIONS: The level long-term trajectory of IQ measures in COS appears stable, similar to that reported for adult onset patients. For COS, level cognitive functioning extends up to 13+ years post psychosis onset, in spite of chronic illness and concomitant, progressive loss of cortical gray matter.