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The aims of this descriptive study were to examine the prevalence and associations of coprophenomena (involuntary expression of socially unacceptable words or gestures) in individuals with Tourette syndrome. Participant data were obtained from the Tourette Syndrome International Database Consortium. A specialized data collection form was completed for each of a subset of 597 consecutive new patients with Tourette syndrome from 15 sites in seven countries. Coprolalia occurred at some point in the lifetime of 19.3% of males and 14.6% of females, and copropraxia in 5.9% of males and 4.9% of females. Coprolalia was three times as frequent as copropraxia, with a mean onset of each at about 11 years, 5 years after the onset of tics. In 11% of those with coprolalia and 12% of those with copropraxia these coprophenomena were one of the initial symptoms of Tourette syndrome. The onsets of tics, coprophenomena, smelling of non-food objects, and spitting were strongly intercorrelated. Early onset of coprophenomena was not associated with its longer persistence. The most robust associations of coprophenomena were with the number of non-tic repetitive behaviors, spitting, and inappropriate sexual behavior. Although coprophenomena are a frequently feared possibility in the course of Tourette syndrome, their emergence occurs in only about one in five referred patients. Because the course and actual impact of coprophenomena are variable, additional prospective research is needed to provide better counseling and prognostic information.

We examined the rates of comorbid pervasive developmental disorders in participants with Tourette syndrome. We used 7288 participants from the Tourette Syndrome International Database Consortium Registry. We found 334 (4.6%; 1 of every 22 participants) with Tourette syndrome had a comorbid pervasive developmental disorder. In participants with Tourette syndrome and comorbid pervasive developmental disorders, 98.8% had one or more comorbidities (pervasive developmental disorder was not counted) compared to 13.2% in the group of participants with Tourette syndrome only. Variables from logistic modeling that were significant predictors of Tourette syndrome and pervasive developmental disorders were: male gender; no family history of tics/Tourette syndrome; and an increased number of comorbidities (P < .001). We found rates of comorbid Tourette syndrome and pervasive developmental disorders to be increased by 13 times. Identification of differences between subgroups of patients with Tourette syndrome may increase understanding of syndromal susceptibility, severity, and outcome.

Partial trisomy 6p with duplications ranging from 6p21 to 6p25–pter is emerging as an established syndrome. We report a case of duplication of 6p (6p23–pter) and deletion of 2q37–qter. Features characteristic of 6p partial trisomy present in the patient are low birth-weight, and mental and developmental retardation. Major facial features include prominent forehead, flat occiput, multiple ocular abnormalities, low-set ears, prominent nasal bridge, long philtrum and small pointed mouth. Repeated examinations of the patient from birth to the age of over 5 years revealed that he has infantile autism. Since autistic children are generally not associated with chromosome anomalies, in view of the present case, it is suggested that karyotypic analysis be considered for such children. Where possible, extended study for autism in 6p trisomic children may also be desirable.

We have established a multisite, international database of 3,500 individuals diagnosed with Tourette syndrome (TS). The male:female ratio is 4.3:1 for the total sample, with wide variation among sites; the male excess occurs at every site. Anger control problems, sleep difficulties, coprolalia, and self-injurious behavior only reach impressive levels in individuals with comorbidity. Anger control problems are strongly correlated with comorbidity, regardless of site, region, or whether assessed by neurologists or psychiatrists. The mean age at onset of tics is 6.4 years. At all ages, about 12% of individuals with TS have no reported comorbidity. The most common reported comorbidity is attention-deficit-hyperactivity disorder. Males are more likely to have comorbid disorders than females. The earlier the age at onset, the greater the likelihood of a positive family history of tics. An understanding of the factors producing these and other variations might assist in better subtyping of TS. Because behavioral problems are associated with comorbidity, their presence should dictate a high index of suspicion of the latter, whose treatment may be at least as important as tic reduction. The established database can be used as the entry point for further research when large samples are studied and generalizability of results is important.

Fetal alcohol syndrome (FAS) is a common cause of developmental disability, neuropsychiatric impairment and birth defects. The disorder is identified by the presence of growth impairment, central nervous system dysfunction, and a characteristic pattern of craniofacial features. The reported prevalence of the disorder varies widely and recent estimates approach 1% of live births. Expression of these features varies by age. People with FAS have high rates of comorbid conditions: attention deficit hyperactivity disorder (40%), mental retardation (15-20%), learning disorders (25%), speech and language disorders (30%), sensory impairment (30%), cerebral palsy (4%), epilepsy (8-10%). Birth defects are common. In the United States, the annual birth cohort of persons with FAS could be as high as 39,000 cases annually. Cause-specific mortality is 6% for patients with FAS. The disorder is expensive to treat and most patients have lifelong impairment. The annual cost of care in the United States would approach US$5.0 billion. Early recognition and entry into appropriate treatment programs appear to improve outcome. Prevention efforts should involve screening for alcohol use prior to pregnancy and at the first prenatal care visit.

The prevalence and magnitude of effect of individual risk markers for specific developmental disorders vary widely across diagnostic category. The four study cohorts for this project were patients from four diagnostic registries in North Dakota for fetal alcohol syndrome (FAS), autism, sudden infant death syndrome (SIDS), and Tourette syndrome. These four cohorts were used to estimate prevalence and magnitude of effect of parental risk markers in patients with developmental disabilities. Cases with North Dakota birth certificates were matched with controls. Using birth certificate data, we then examined five parental risk markers for each cohort and estimated direct and indirect effects for each risk marker by cohort. The authors found two significant paternal risk markers (age in SIDS and education in FAS). Significant maternal markers were age in SIDS, education in FAS, autism, and SIDS. Marital status was a significant risk marker in FAS. Effect sizes were estimated using paired t tests, odds ratios, and population attributable risk (PAR) for both direct and indirect effects for each marker. We estimated both direct and indirect effects to allow for direct comparisons of the differential effect estimates of each of these markers. The direct effect of parental markers differs across diagnostic cohorts of patients. Use of cohorts from similar denominator populations obtained from prevalence studies is a useful methodological tool for estimating the prevalence and magnitude of effect of risk markers.

The objective of this study was to use population-based data to estimate the prevalence and cost of treatment for attention-deficit hyperactivity disorder (ADHD). The North Dakota Department of Health Claims Database was used to estimate the administrative prevalence, annual cost of care per case, and total annual cost of care for subjects with ADHD compared with controls. The case population was 7745, and the mean prevalence rate was 3.9%, with a peak prevalence at 10 years of age. For children with ADHD, the annual cost of care was 649 dollars compared with that of controls at 495 dollars. Cost of care attributable to ADHD was 649 dollars - 495 dollars = 54 dollars (31%). Utilization by children with ADHD with publicly funded payers was increased 25 to 175% over that of children with privately funded coverage. In North Dakota, the annual cost of care for children with ADHD was 5.1 million dollars, 5.6% of all health care costs for children. The annual attributable cost of care was 1.79 million dollars. Thus, 1.9% of total health expenditures for children was attributable to ADHD. In the United States, the cost of care attributable to children with ADHD would be 2.15 billion dollars annually.

We conducted a 12-year prospective study of children with pervasive developmental disorders from North Dakota. In a prospective longitudinal follow-up study, of 59 patients, we found 52 patients with pervasive developmental disorders (88%). Ten (17%) declined to participate. We collected data on 42 (71%) of the original cohort. Of the 42 subjects, 1 died (1.7%). The other 41 were followed up for 492 person-years. Severity scores for the Diagnostic and Statistical Manual of Mental Disorders-III-Revised (DSM-III-R) declined 20% and for DSM-IV 23%. Global Assessment of Functioning improved 19%, and the average number of comorbidities decreased 45%. Thirty-seven percent of patients improved in all four measures, whereas only 5% improved in only one measure. Pervasive developmental disorders are developmental disorders with a long-term course of limited improvement for most patients. Male subjects demonstrated substantially more variability in improvement but, overall, demonstrated more improvement than female subjects. (J Child Neurol 2002; 17:681-688).

The goal of this study was to collect prospective longitudinal information on the development of an epidemiologically defined cohort of patients with Tourette syndrome. These data may improve prognostic understanding of the condition. This information will also be important for specification of an adult phenotype for genetic marker studies. A prospective longitudinal cohort study was conducted. Fifty-four of 73 patients from our 1986 prevalence study of Tourette syndrome in North Dakota school-aged children were eligible for inclusion. The subjects were diagnosed in 1984 and 1985. We were able to interview 39 of 54 eligible patients for 507 person-years of follow-up. For the cohort, tic severity declined by 59%, global assessment of functioning improved by 50%, and the average number of comorbidities decreased by 42%. Forty-four percent of patients were essentially symptom free at follow-up. Only 22% were on medication as adults. Tourette syndrome is a developmental neuropsychiatric disorder with a long-term course that is favorable for most patients. Males demonstrated substantially more variability in improvement but overall demonstrated more improvement than females. (J Child Neurol 2001;16:431-437).

Five patients with a fragile site at 16q22-23 and neuropsychiatric disorders are reported. Three of five had Tourette disorder, three had mental retardation, two had bipolar disorder, and one had autistic disorder. During our attempts to study the fragile sites in more detail we were unable to reproduce the fragile sites found several years earlier. The potential relationship between the fragile sites and the neuropsychiatric disorders in these patients is discussed. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:69-73, 2000.

The co-occurrence of Tourette syndrome (TS) and Down's syndrome (DS) has been previously reported in the literature. In the present study, a retrospective record review was conducted using the North Dakota TS registry in order to ascertain the number of cases of TS and DS, and to develop case descriptions. We identified five cases from North Dakota. Two of these patients were simply comorbid for TS and DS. One was additionally comorbid for bipolar disorder, another for childhood disintegrative disorder and a third had a D/G group translocation. The association between DS and TS occured in 2% of TS patients. Contrary to the situation in patients with pervasive developmental disorders, the presence of TS in DS may be a negative prognostic indicator.

In a previous study, the present authors reported on the prevalence of psychoactive (psychotropic and anticonvulsant) medication use among people with intellectual disability residing in community settings in the state of North Dakota, USA. The present study replicates the earlier survey. A questionnaire was sent to all group homes serving people with developmental disabilities. Questionnaires were obtained for 100% of North Dakota group home residents. Psychoactive medications (anticonvulsants included) were used by 38% of the 1384 residents represented. The results are discussed in relation to the previous study from North Dakota.

Body dysmorphic disorder (BOD) is a somatoform disorder characterized by an affected person's preoccupation with an imagined defect in appearance, which results in significant distress and impairment in functioning. '-7Onset of the disorder usually occurs in adolescence,2.3.5.7 and onset in childhood has not been previously described.2.3·7 High rates of affective and anxiety disorders in BOD patients and their relatives suggest that a significant relationship may exist between these disturbances and BDD,'-6 and it has been proposed that BOD should be conceptualized as an obsessive-compulsive spectrum disorder and more broadly as an affective spectrum disorder.3.s Favorable response to serotonergic antidepressants in open trials suggests an important role of central nervous system serotonergic dysfunction in the pathogenesis of BDD.'-4 Tourette's disorder (TO) is a common hereditary neurobehavioral spectrum disorder whose onset usually occurs in childhood or early adolescence.9-'5 In addition to motor and vocal tics, patients may experience a wide array of neuropsychiatric disturbances, including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OeD), and affective and anxiety disorders.9-'2 It has been proposed that the associated disorders are genetically related to the tic disorder9-12 and that the TO spectrum of disorders is identical 'o to the

We reviewed the records of 42 consecutive cases of children with Tourette Syndrome (TS) who had IQs above 70, and contrasted the reading, reading comprehension, math, and spelling quotients with IQ scores to determine how many would meet criteria for a learning disability. The mean IQ of the 35 males and 7 females was 94.4 and was higher than the mean math score (82.8), spelling score (90.4), reading score (87.4), and reading comprehension score (853). Using a 1.5 standard deviation discrepancy, 51% met criteria for learning disability in at least one academic area; 21% had a 2-standard-deviation discrepancy. Children with TS frequently have learning disabilities, and assessment of academic achievement should be a routine aspect in the evaluation of such children.

Pyridoxine (vitamin B6) (2q31) dependency is a rare autosomalrecessive disorder that causes a severe seizure disorder of prenatal or neonatal onset. The abnormality appears to inhibit the binding of vitamin B6 to the enzyme glutamic acid decarboxylase-1, which is needed for the biosynthesis of γ-aminobutyric acid (GABA). Most patients with pyridoxine-dependent seizures require lifelong treatment with pyridoxine. The full range of associated symptomatology is unknown since fewer than 100 cases have been reported. A majority of cases are mentally retarded. We report a 15-year-old boy with pyridoxine-dependent seizures, nonpyridoxine-dependent seizures, severe mental retardation, autistic disorder, aerophagia, breath holding, and self-injury. This complex outcome should alert clinicians to the wide range of neuropsychiatric outcomes associated with this disorder. ( J Child Neurol 2000;15: 763-765).

Objective: A study of the shared phenomenology between Tourette syndrome (TS) and schizophrenia. Method: An illustrative case report is presented. We used a chart review of 399 clinically ascertained patients with TS to identify 10 cases meeting criteria for schizophrenia. From our 10 patients, salient clinical characteristics were then tabulated. We then extracted similar clinical characteristics from a previously published series of patients with comorbid TS and schizophrenia in order to combine cases and allow for a comparison between childhood-onset schizophrenia (COS), adolescent-onset schizophrenia (AdolOS), and adult-onset schizophrenia (AduOS) cases in these groups. Results: We found 10 cases of schizophrenia (all were males) in the 399 TS patients for a prevalence rate of 2.5% (95% CI 0.96– 4.04). Mean age of tic onset for TS diagnostic criteria ranged from 2-14 years with a mean of 8.2 years. The mean age of diagnosis for schizophrenia was 14.2 (range 9–23 years). We found six cases of schizophrenia with onset of positive psychotic symptoms by 13 years of age, two cases with onset after 13 years of age and before 18 years of age, and two cases with onset after 18 years of age. Attention deficit hyperactivity disorder was present at a higher rate (70%) than one would expect in a clinically ascertained group of patients with TS. Comparison between COS, AdolOS and AduOS in our pooled cases noted a sex bias skewed toward males. Catatonic symptoms may be more likely in child or adolescent onset cases and negative symptoms more likely in AduOS cases. Conclusions: The 2.5% prevalence of schizophrenia in our TS sample exceeds the 1% expected rate of schizophrenia in the general population (chi-square=9.14; P=.0025). The six cases of COS (before 13 years of age) exceeds the expected rate of 1–2 per 100,000 (chi-square=4499; P=.0001). The 752-fold increase in observed rates of comorbid TS and COS over expected rates suggests a role for unknown common underlying etiologic factors. Based on clinical features, patients with TS and comorbid COS, AdolOS, or AduOS do not have different conditions. We conclude with suggestions for further research. © 2009 Published by Elsevier Inc.

Service providers for children in the state of North Dakota were surveyed to determine the prevalence rate of Rett syndrome (RS). Five patients with definite RS were identified in a population of 203,801 children (98,932 girls) 0-18 years of age yielding a prevalence rate of RS of 1 in 40,760 in North Dakota children. For girls the rate of RS is 1 in 19,786. Similar surveys of other states using comparable modes of ascertainment will be important as points of comparison for prevalence rates of RS.

BACKGROUND: Our objective was to estimate the mortality rate in subjects with fetal alcohol spectrum disorders (FASD) and their siblings whose FASD status was unknown. METHODS: We used the state FASD Registry to link subjects with FASD to a North Dakota birth certificate. We were able to link 304 of 486 cases (63%). We used the birth certificates to identify the mother and children born to the mother (siblings). We then searched for death certificates for both the FASD cases and their siblings. We then calculated the annual and age-adjusted mortality rates for the siblings of the Registry cases and compared them with mortality rates from North Dakota. RESULTS: The FASD case mortality rate was 2.4%, with a 4.5% mortality rate for their sibings, accounting for 14% of all deaths when compared to the North Dakota residents matched by age and year of death. The sibling deaths accounted for 21.5% of all cause mortality matched by age and year of death. The age-standardized mortality ratios were 4.9 for the FASD cases and 2.6 for their siblings whose FASD status was unknown. CONCLUSIONS: Mortality rates for FASD cases and their siblings were increased and represent a substantial proportion of all cause mortality in North Dakota. Prevention of FASD may be a useful strategy to decrease mortality. Birth Defects Research (Part A), 2008. © 2008 Wiley-Liss, Inc.

We present the case of a boy who over time sequentially exhibited symptoms consistent with a pervasive developmental disorder, schizophreniform symptomatology, multiple motor and vocal tics, and myoclonus. During this period he experienced multiple episodes of group A beta-haemolytic streptococcal (strep) infection confirmed by culture and serological studies. We speculate that paediatric autoimmune neuropsychiatric disorder associated with strep (PANDAS) may have served as an element in a complex chain of causation influencing the expression of his symptoms. Our main emphasis is to utilize our case study as an example of the application in case formulation of the neuropsychiatric developmental model and of the neurodevelopmental model on symptom ontogenesis and clinical outcome.

Background Tourette Syndrome (TS) is a neurodevelopmental disorder of childhood. Learning disabilities are frequently comorbid with TS. Using the largest sample of TS patients ever reported, we sought to identify differences between subjects with TS only and subjects with TS and a comorbid learning disability. Methods We used the Tourette Syndrome International Consortium database (TIC) to compare subjects with comorbid Tourette Syndrome and learning disabilities (TS + LD) to subjects who did not have a comorbid learning disability (TS - LD). The TIC database contained 5,500 subjects. We had usable data on 5,450 subjects. Results We found 1,235 subjects with TS + LD. Significant differences between the TS + LD group and the TS - LD group were found for gender (.001), age onset (.030), age first seen (.001), age at diagnosis (.001), prenatal problems (.001), sibling or other family member with tics (.024), two or more affected family members (.009), and severe tics (.046). We used logistic modeling to identify the optimal prediction model of group membership. This resulted in a five variable model with the epidemiologic performance characteristics of accuracy 65.2% (model correctly classified 4,406 of 5,450 subjects), sensitivity 66.1%, and specificity 62.2%. Conclusion Subjects with TS have high prevalence rates of comorbid learning disabilities. We identified phenotype differences between the TS - LD group compared to TS + LD group. In the evaluation of subjects with TS, the presence of a learning disability should always be a consideration. ADHD may be an important comorbid condition in the diagnosis of LD or may also be a potential confounder. Further research on etiology, course and response to intervention for subjects with TS only and TS with learning disabilities is needed.

Fetal alcohol syndrome (FAS) is a common cause of neuropsychiatric disorders, growth impairment and craniofacial abnormalities. The syndrome may be more common than has been previously reported. Considerable controversy exists over the approaches for diagnosis of the syndrome. Method : In this study, we examined the rate of agreement for two diagnostic schema using 385 subjects that had been referred for assessment of possible FAS. Cases had initially been diagnosed using the Fetal Alcohol Syndrome Diagnostic Checklist (FASDC). We then reviewed the chart of each of the 385 subjects referred and assigned each subject to a category from the Institute of Medicine (IOM) Criteria or to a NOFAS category. We then compared the IOM categories with the FASDC. Results: Rates of agreement with the IOM Criteria ranged from 59–71% using the FASDC. Poorest agreement was found in conjunction with partial FAS (PFAS)/alcohol-related neurodevelopmental disorder (ARND). Removal of exposure data from the scores greatly affected accuracy for the FASDC scores. Discussion : The schema had only modest rates of agreement for classification of subjects with a diagnosis of FAS. This study does not determine if the diagnosis used in the development of the cohort was accurate. Further study utilizing multiple diagnostic schema in a single population will help examine the rates of diagnostic agreement between differing diagnostic schema. A valuable cohort to study would be the subjects in the CDC surveillance system. A perspective study utilizing a single cohort and applying multiple diagnostic criteria at the same time would be useful.

Fetal alcohol syndrome (FAS) is a common developmental disorder with impairments in multiple neuropsychiatric spheres of varying severity. Few population-derived studies of the behavioral phenotype are available. The purpose of this study was to estimate the prevalence of neuropsychiatric disorders in three groups: subjects who met criteria for FAS (n=152); subjects who met criteria for partial FAS/ARND (n=150); and referred subjects who did not meet criteria for either FAS or partial FAS/ARND (n=86). Each subject had a standardized evaluation by a medical geneticist. All subjects were from North Dakota. We found increases in the prevalence rates of neuropsychiatric disorders in subjects with FAS compared to subjects with partial FAS/ARND and the lowest rates in the group that did not meet criteria for either FAS or partial FAS/ARND. Comorbid attention deficit hyperactivity disorder occurred in 73% of cases with FAS, in 72% cases with partial FAS/ARND, and in 36% subjects who did not meet criteria for either. For other neuropsychiatric disorders, a similar distribution of comorbidity was found. This study supports the concept of a continuum of impairment resulting from prenatal alcohol exposure. The presence of complex cognitive, behavioral, and physical symptomatology in the affected subjects with prenatal alcohol exposure would seem to fit well under the diagnostic rubric of fetal alcohol spectrum disorder (FASD). Diagnosis and long-term management will require increasing access to multidisciplinary child development teams including mental health professionals who treat children and adolescents. Adults will require care primarily from teams with expertise in mental health and developmental disabilities.

Research on neuropsychiatric disorders has produced a number of very important findings in the last few decades. However, several problems continue to hinder research in this area. One problem area has been the appropriate classification of disease status for probands and extended family members in linkage studies. In this article, we examine rates of misclassification in a 12-year follow-up study of children previously diagnosed with Tourette syndrome. At the 12-year follow-up, we found a 5 to 12% rate of misclassification of previously diagnosed cases. We present a model of a linkage study with three classification steps. The model demonstrates that an error rate of 5% would result in misclassification of 20% of true cases by step three. Adding additional steps to improve diagnostic accuracy may increase rather than decrease classification error. (J Child Neurol 2001;16:499-504).

Aim : To identify pre- and perinatal risk factors for autism. Method: Case control study. We matched names of patients from North Dakota who met DSM criteria for autism, a pervasive developmental disorder, and autistic disorder with their birth certificates. Five matched controls were selected for each case. Results: Univariate analysis of the 78 cases and 390 controls identified seven risk factors. Logistic modeling to control for confounding produced a five variable model. The model parameters were X 2 = 36.6 and p < 0.001. The five variables in the model were decreased birth weight, low maternal education, later start of prenatal care, and having a previous termination of pregnancy. Increasing father's age was associated with increased risk of autism. Conclusion: This methodology may provide an inexpensive method for clinics and public health providers to identify risk factors and to identify maternal characteristics of patients with mental illness and developmental disorders.

A 40-year-old man with childhood-onset Tourette syndrome (TS) developed Huntington disease (HD). We believe this to be the first reported case of childhood-onset TS with adult onset HD. Discovery of other cases with both disorders may provide clues to the pathophysiology of both conditions.

A prevalence study of Prader-Willi syndrome (PWS) has been conducted in North Dakota. All pediatricians, neurologists, child psychiatrists, psychologists, and clinical geneticists were surveyed. The state's comprehensive evaluation center, the state hospital, the state institution for the mentally retarded, and group homes for the developmentally disabled, including one for persons with PWS, were also contacted. Seventeen patients were identified, 8 males, 8 females, and one patient whose sex was not specified. This suggests a prevalence rate of 1 per 16,062 in North Dakota.

Aims: To identify pre- and perinatal risk factors for Tourette disorder. Methods: Case control study. We matched names of patients who met DSM criteria for Tourette disorder with their birth certificates. For each case five controls were selected. The controls were matched by sex, year and month of birth. Results: Univariate analysis of the 92 cases and the 460 matched controls identified 4 risk factors; one categorical variable- trimester prenatal care begun and 3 continuous variables - apgar score at 5 minutes, month prenatal began and number of prenatal visits. Logistic modeling to control for confounding produced a three variahle model (apgar score at 5 minutes (OR = 1.31), number of prenatal visits (OR = .904) and fathers age (OR = .909). The model parameters were; X 2 = 19.76; df = 3; p

A prospective 14-year outcome study of two children meeting DSM-IV criteria for childhood disintegrative disorder is presented. Their ages at first evaluation were 4 years 7 months and 6 years 3 months. Both are now adults and continue to have a severe pervasive developmental disorder, mental retardation, seizure disorder, and are non-verbal. Both require residential care.

Objective Several studies report a greater than expected concurrence for Tourette's syndrome (TS) with autistic disorder (AD). TS and bipolar disorder (BD) also may co-occur at a greater than expected rate. The authors assess whether there is a greater than expected concurrence for TS+AD+BD. Method Four patients who had at some time in their lives diagnoses of TS, AD, and BD were identified. Three of these had concurrent TS+AD+BD. Diagnoses were made according to DSM-III-R criteria. Each of these patients was living in North Dakota and was in the authors' care at the time of this study. Results The point prevalence (risk) for concurrent TS+AD+BD in North Dakota is not less than 4.6 × 10−6. The developmental sequence of syndromes in these four patients was AD, then TS and then BD. Data from the authors' previously published, population-based prevalence studies indicate that TS+AD+BD co-occur at a greater than chance expectation. Conclusions Common etiological factors may be involved in the greater than chance concurrence of TS+AD+BD.

It has been questioned whether Asperger's syndrome (AS) is in fact a specific (high-functioning) subgroup of autism, rather than a distinct entity. Thirteen AS patients were compared with 13 autistic patients and 13 developmentally disordered controls. While there was symptom overlap between AS and autism, patients could be separated into one or other group. However, current criteria are based on symptoms, and it is argued that studies of genetics and treatment response are needed to elucidate the relationship between these developmental disorders.

Two male children meeting criteria for Childhood Onset Pervasive Developmental Disorder (COPDD) are described. The current DSM-III category of COPDD may have value in separating these children from others with PDD. The authors suggest that these two children, and other children described in the literature as having dementia infantalis and/or disintegrative psychosis, have a distintegrative disorder resulting in muteness, profound mental retardation and severe autistic symptomatology. The term "pervasive disintegrative disorder" may be appropriate for such children and specific diagnostic criteria are suggested. The disorder appears to be extremely rare, with a prevalence estimate of 0.11 per 10,000.

Three boys with an early history of attention deficit disorder with hyperactivity developed Tourette disorder. At 13, 12 and eight years of age, respectively, each met DSM-III criteria for a manic episode or bipolar disorder. Each of the boys had a family history of affective or affective spectrum disorder. Lithium carbonate in a range of 0.8 to 1.2 meq/L markedly improved their bipolar symptomatology with Tourette symptoms improving in two patients. Further study is suggested to determine the significance of these findings.

The current status of the use of lithium in the treatment of tic disorders is reviewed. Areas of pathophysiologic overlap between bipolar and tic symptomatology are explored from the standpoint of shared etiology versus co-morbidity. Data from ten cases of children and adolescents with tic disorders treated with lithium are presented. Five exhibited a positive response to tic and associated symptoms, while five did not. Treatment responders versus nonresponders were compared along a number of parameters including co-morbidity with other syndromes, family history, prior medication history, medication used concurrently with lithium, and medication used subsequent to treatment with lithium. Differences between the two groups are explored.

The authors report a second visually impaired, mentally retarded male who presents with symptoms consistent with atypical pervasive developmental disorder, Tourette disorder, and a syndrome of approximate answers (Ganser's syndrome). Both this case and an earlier reported case are significant in that they identify two children with strikingly similar long-standing symptoms and developmental histories. Since these findings may have broader relevance to children with multiple coexisting disorders, diagnostic and intervention strategies in this population are reviewed.

Childhood schizophrenia ia an increasingly difficult disorder to identify. We review the DSM-III criteria for schizophrenia and raise the possibility that schizophreniform symptoms may be present in children with Tourette disorder to identify. We review the DSM-III criteria for seen in Tourette disorder that resemble the symptoms of schizophrenia are discussed and data from selected patients are presented. This data is presented to assist clinicians in making more appropriate diagnoses (that is, avoiding the incorrect diagnosis of schizophrenia) and in refining distinctions between the symptoms of schizophrenia seen in childhood and similar symptoms seen in other developmental disorders, especially Tourette disorder.

In a population of 59 patients with pervasive developmental disorders, four patients manifested hyperlexia. These four patients had improved outcomes when contrasted with other patients with pervasive developmental disorders who had similar cognitive ability and levels of behavioral dysfunction. In children with hyperlexia the average IQ at first evaluation was 43 and the most recent IQs averaged 94.7. This change over time was significant (x2 = 8.0, p = 0.02). All patients with hyperlexia demonstrated this improved outcome. The authors speculate that hyperlexia may reflect an island of skills relating to generalized language function and may be a marker for children who have the potential to achieve an improved cognitive outcome. A trend for behavioral improvement was also observed. Treatment differences between groups were not identified. Possible explanations for this improved outcome are discussed.

Speech, language and voice disorders associated with Tourette Disorder (TD) are reviewed. Two cases of TD associated with falsetto are presented. The relationship between abnormalities in vocal pitch and tic symptomatology is explored.

Three patients with Tourette syndrome and transient recurrent hemiparetic posturing (pseudohemiparesis) are presented. The transient nature of this posturing is not consistent with a static central nervous system deficit. It is felt that the Tourette syndrome symptomatology and pseudohemiparesis share a common pathophysiology. The inclusion of pseudohemiparesis in the differential diagnosis for cerebral palsy is suggested. ( J Child Neurol 1986;1:369-371)

A family with fragile-X syndrome is reported. One sibling has atypical pervasive developmental disorder and moderate mental retardation. A second sibling has Tourette's syndrome, moderate mental retardation, seizure disorder, and autism. A third sibling has attention deficit disorder, moderate mental retardation, and developmental language disorder, expressive type. The authors believe that this family represents a classic example of the differential outcome of interactions of common biogenetic and environmental influences. We propose that in this family the multipotential outcome is at least influenced by if not caused by a common genetic defect.

The authors report on three patients in North Dakota with an apparent onset of Gilles de la Tourette's syndrome before 1 year of age. Infantile onset may occur in 4.1% of the child patients with Tourette's disorder in that state. It is suggested that the diagnostic criteria for Tourette's disorder be revised to include patients who develop the illness before they are 1 year old.

This paper describes the symptom profiles of a large group of patients with Gilles de la Tourette disorder (TD). In Part one we report the results of a questionnaire study of patients in North Dakota with TD. The data suggest that TD patients have high rates of academic and social problems. Obsessive-compulsive symptomatology is quite high in this population. This report is unique in that these results are reported using an available data base to allow for pooling of future research in TD patients in other settings. In Part two of this paper we discuss important findings from our clinic population of 130 TD patients.

This is a case report of a 15-year-old visually impaired, mentally retarded male who presents with symptoms consistent with Tourette Syndrome, a Syndrome of approximate answers (Ganser's Syndrome) and Atypical Pervasive Developmental Disorder. The authors feel that this follow-up on the case presented earlier by Parraga and Butterfield raises the possibility of a link between a number of the symptoms of adult schizophrenia, appearing in attenuated form in these two cases, and Tourette Syndrome.

We review the English-language literature on Asperger's syndrome (AS), with particular reference to diagnostic criteria and differentiation from infantile autism and personality disorders, and describe six cases seen in practice; all met DSM-III criteria for ‘atypical pervasive developmental disorder’. Three also developed Tourette syndrome: the co-occurrence of the two disorders, and methods of intervention, are discussed.

Children with developmental regression and emerging symptoms of autism have been given a variety of classifications. The authors compare two boys with Heller dementia with six girls with Rett syndrome. They all differed from children with classic autism in that they had normal prenatal and perinatal periods, followed by marked developmental regression, after which they acquired few or no skills. The boys differed from the girls in terms of estimated prevalence, age at onset, stereotypic breathing patterns, midline hand stereotypies, hand and gait apraxia and speech development. It is suggested that these children should be distinguished from those with classic autism, and should be classified as 'pervasive disintegrative disorder, Heller type' and 'pervasive disintegrative disorder, Rett type'.

Data is presented on 12 patients in whom phenobarbital, when used as an anticonvulsant medication, either precipitated hyperactivity or permanently exacerbated existing hyperactivity. Discontinuation of the medication resulted in a decrease in hyperactivity in all patients. None of the patients returned to a pre-drug level of activity. The effect of phenobarbital on the reticular system is discussed. It is important for clinicians to carefully consider the potential side-effects of the use of phenobarbital in children in whom overactivity is a problem. Ascertaining whether hyperactivity has been caused or exacerbated by exposure to phenobarbital may be important in the differential diagnosis of hyperactivity.

The authors discuss the current uncertainty regarding etiology, treatment, and classification of developmental language disorders (DLD). Referring to previous reports in the literature, they propose a specific subclass of DLD associated with a hypothesized dysfunction of the dopaminergic system of the basal ganglia. Mechanisms of dysfunction and treatment implications are discussed.

Fifty-nine patients were identified whose early history was consistent with infantile autism or other pervasive developmental disorders (PDD). Twelve of these patients, later in their history, developed symptoms consistent with Tourette disorder (TD). The group of patients who developed TD scored significantly higher on measures of IQ and receptive and expressive language. It is suggested that the development of the symptoms of TD subsequent to the onset of PDD may serve as a marker for improved developmental outcome and that children with PDD who also meet criteria for TD may constitute a distinct subgroup of children with PDD. Implications for diagnosis and management are discussed.

A patient with hyperlexia and hypergraphia is described. The unusual co-occurence of these two abilities is discussed. Hyperlexia may provide a useful marker to guide educational programming.

The breastfeeding rates for 50 children with pervasive developmental disorder (PDD) from North Dakota's roster of PDD patients were compared with the national average and with the rates for a control group matched for age, sex, and IQ. In addition, the breastfeeding rates for the normal siblings of the PDD and control groups were compared with the national average to help determine whether the lower breastfeeding rate among PDD patients was a function of parenting practices. The breastfeeding rates for the PDD and control groups were not significantly different from each other, but both were significantly lower than the national average. The breastfeeding rate for the normal siblings of PDD children was almost identical to the national average, but the rate for the siblings of the matched control group was significantly lower than the national average. These results are discussed in terms of hypotheses regarding the early parent-child interactions and characteristics in the families of PDD children.

In North Dakota children, the prevalence rate for DSM-III schizophrenia is 0.19 per 10,000 for both sexes; for males 0.35 per 10,000 and 0 per 10,000 for females. In this report we utilize case studies to convey the symptomatic courses of the 2 child patients with DSM-III-R defined schizophrenia. Both patients first developed Tourette Disorder (TD) and later developed schizophrenia by DSM-III and by DSM-III-R criteria. Among North Dakota children with TD the prevalence rate of schizophrenia is 8.7% for boys. The ramifications of concordance for the two disorders are explored.