The reliability of the diagnostic features in patients with narcolepsy

This study determined the test-retest reliability of the polysomnographic findings in narcolepsy. The diagnosis of narcolepsy was based on clinical symptoms and polysomnographic signs. Control subjects were screened before participation and were split based on their screening multiple sleep latency test (MSLT) into high- and low-MSLT groups. Subjects completed two polysomnographic evaluations with at least 5 days between laboratory tests. Narcoleptics had lower sleep efficiencies and high stage 1% when compared to the low MSLT control group. They had more awakenings and less stage 2% than the control groups. Narcoleptics had a shorter latency to 1 when compared to the high-MSLT group but comparable to that of the low-MSLT group. Narcoleptics had a higher number of sleep-onset rapid eye movement periods (SOREMPs) than both control groups. The MSLT scores were stable across the two evaluations and showed a statistically significant correlation. Twenty-eight of the 30 narcoleptic subjects had two or more SOREMPs on reevaluation. None of the controls had multiple SOREMPs. Thus, multiple SOREMPs were shown to be a reliable finding in patients with narcolepsy.     

Wake disorders. I. Primary wake disorders

Primary wake disorders encompass various conditions of excessive daytime sleepiness and/or increased nighttime sleep, of unknown origin beginning most often in adolescence and of chronic or recurrent natural history. The best known of these conditions is narcolepsy associating two major clinical features, irresistible episodes of sleep, sleep onset REM periods and an almost constant association with HLA DR2-DQ1. The prevalence of the condition is close to the one of multiple sclerosis but positive diagnosis requires most often over 10 years to be made. The treatment of excessive daytime sleepiness has recently benefited from a new non-amphetamine awakening compound, modafinil, active in 60 to 70 p. 100 of the cases. The treatment of cataplexy still relies on antidepressants, tricyclics or selective serotonin reuptake blockers. Major advances in pathophysiology and pathogeny have been obtained through a natural model of the disease, canine narcolepsy. Pharmacological studies point to the importance of alpha-1 b adrenergic mechanisms in cataplexy, while dopaminergic systems seem more involved in excessive daytime sleepiness. As concerns genetics, the HLA DQB1*0602 gene predisposes to narcolepsy. In the canine model it is mirrored by an autosomal recessive gene showing a strong homology with the human immunoglobulin gene mu-switch. Familial studies have shown that besides typical phenotypes, attenuated forms of the condition characterized by isolated recurrent daytime naps and/or lapses into sleep do exist. In addition one or several other genes may be involved. Narcolepsy is multifactorial, including one or several genes as well as environmental factors. Idiopathic hypersomnia is noted for very long night sleep, difficulty waking up and more or less constant excessive daytime sleepiness. In contrast with narcolepsy sleep in not refreshing. There is no polysomnographic or immunogenetic special feature. Idiopathic hypersomnia is 10 times less frequent than narcolepsy. It is often overdiagnosed due to insufficient knowledge of other causes of excessive daytime sleepiness such as the upper airway resistance syndrome. Modafinil is also of great value in the treatment of idiopathic hypersomnia. In the absence of an animal model, pathophysiology and pathogeny are still poorly understood. Even rarer is the Kleine-Levin syndrome which is easily distinguishable through its recurrent character and its tendency to progressively disappear. It mainly occurs in early adolescent males. Its main features are episodes of sleep of a week duration recurring at a several months' interval along with disturbances of alimentary and sexual behavior. There is no satisfactory treatment of hypersomniac episodes. On the other hand a prophylactic treatment with carbamazepine or lithium may be active. Pathophysiology remains unsettled in spite of some evidence of a hypothalamic functional disturbance.     

REM sleep behavior disorders in multiple system atrophy

We report the results of clinical and polysomnographic investigations on 39 consecutive multiple system atrophy (MSA) patients. Twenty-seven patients (69%) reported nocturnal motor paroxysmal episodes related to dreams, suggesting the clinical diagnosis of REM sleep behavior disorder (RBD). In 12 of them (44%), RBD preceded the clinical onset of the disease by more than 1 year. In seven (26%), the RBD onset was concomitant with and in eight (30%) was at least 2 years after the appearance of motor or autonomic symptoms. On polysomnographic recordings, 35 of 39 MSA patients (90%) had RBD. Other polysomnographic findings included nonclinical obstructive sleep apnea in 6 patients, laryngeal stridor in 8 patients, and periodic limb movements during sleep in 10 patients. Our data show that RBD represents the most common clinical sleep manifestation and polysomnographic finding in patients with MSA. RBD can frequently herald the appearance of other MSA symptoms by years. Extended polysomnographic montages are recommended in MSA sleep studies.     

Age of onset of child maltreatment predicts long-term mental health outcomes.

The authors tested the hypothesis that children who are maltreated earlier in life are at greater risk for poor psychological functioning in adulthood than those maltreated later in life. Age of onset of maltreatment was assessed with 3 classifications: (a) continuous (ages 0-11 years); (b) dichotomous (early [ages 0-5 years] vs. later [ages 6-11 years]); and (c) developmental (infancy [ages 0-2 years], preschool [ages 3-5 years], early school age [ages 6-8 years], and school age [ages 9-11 years]). Individuals with documented cases of physical and sexual abuse and neglect prior to age 12 (N=496) were followed up and assessed in adulthood. Results indicated that an earlier onset of maltreatment, measured dichotomously and developmentally, predicted more symptoms of anxiety and depression in adulthood, while controlling for gender, race, current age, and other abuse reports. Later onset of maltreatment, measured continuously or developmentally, was predictive of more behavioral problems in adulthood. Implications for the assessment of maltreated children, the prevention of adult psychopathology, and the classification of age of maltreatment onset are discussed. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Attention deficit/hyperactivity. Diagnostic criteria and classification]

Following several reports on treatment of adults with attention deficit/hyperactivity disorder, diagnostic problems regarding the diagnosis are discussed. Symptoms and criteria have changed considerably over the years. Many of those who were given this diagnosis earlier would probably be given a different diagnosis today. Patients should be diagnosed according to the latest diagnostic criteria, but these are developed for children, and are not always adequate for adults. Knowledge regarding the manifestation of the disorder in adults is not sufficient. In order to make this diagnosis in an adult, there must be evidence of the symptoms at the time of examination and also in childhood. The latter may be difficult or impossible to demonstrate. Reliable information on the symptomatology of attention deficit/hyperactivity disorder in adulthood will not be available until children who are given the diagnosis today according to DSM-IV or the research criteria of ICD-10 have been followed up in adulthood.     

Difficult diagnosis of Crohn's disease

It is often difficult to diagnose Crohn's disease because of the numerous clinical symptoms. In a retrospective study from 1963-1975 the initial diagnosis was examined in 101 patients with Crohn's disease. In 22% of the patients the initial diagnosis was correct, in 78% one or more wrong diagnoses were made. The most regular wrong diagnosis was colitis ulcerosa (30%). 41 patients were unnecessarily treated surgically before the correct diagnosis was established. The mean time from the on-set of the symptoms until the correct diagnosis was 3.6 years, the mean time from the first wrong diagnosis to the correct diagnosis, 2.9 years. In the later few years a decrease in wrong diagnoses, an increase in initially correct diagnoses and a shortening of the interval between beginning of symptoms until final diagnosis are recognizable. The possible reasons are discussed.     

Development of systemic lupus erythematosus in mice is associated with alteration of neuropeptide concentrations in inflamed kidneys and immunoregulatory organs

Pulmonary arteriovenous malformation (PAVM) is an uncommon but not rare disease. It is very often associated with hereditary hemorrhagic telangiectasia (Osler-Weber-Rendu disease, OWRD). Both conditions may be readily diagnosed at the bedside when careful attention is given to clues from history taking and physical examination. Sometimes the clinical features may be neglected, delaying the diagnosis. The natural history of this disease is still incompletely understood because of the paucity of cases. This retrospective study was undertaken to evaluate the clinical manifestations and treatment options in patients with documented PAVM at the National Taiwan University Hospital between 1985 and 1997. Ten patients (4 men, 6 women) of documented PAVM were evaluated. Mean age at diagnosis was 37.8 years (range 22-63). Presenting symptoms included dyspnea on exertion, characteristics of OWRD, and major neurologic events. Six episodes of brain abscess occurred in three patients. The predominant location of PAVMs was the lower lobe. Solitary PAVM was more frequent in our patients (5/6) with OWRD than in other reports. The therapeutic options were: surgical resection (3 patients), embolotherapy (4), and no treatment (4). One patient, who refused treatment at first, developed a brain abscess later. There was no documented recurrence or growth of new PAVMs in patients who underwent surgical resection. Embolotherapy failed in one patient; no recanalization was found in the remaining patients. In conclusion, the diagnosis of PAVM may be subtle, but careful attention to historic clues and physical findings may lead to early diagnosis. Appropriate treatment is mandatory and may prevent the severe complications of PAVM. The debate about the preferred treatment seems likely to continue until more is known about the natural history of this disease.     

Tetanus of immunized children

Five children aged five to 15 years contracted tetanus in Finland between 1969 and 1985, together with 101 adults. Four of the five had been adequately immunized against tetanus. The clinical picture of tetanus was mild or moderate, and none of the children needed respirator treatment. Epilepsy, meningitis and psychogenic symptoms were considered in the differential diagnosis. The course of tetanus in immunized patients is atypical and often benign, but the diagnosis is problematic--in contrast to affected children in developing countries, whose populations are not adequately immunized and where neonatal tetanus is common and often fatal.     

Adapting Psychotherapy to Meet the Needs of Adults With Attention-Deficit/Hyperactivity Disorder.

Requests for the assessment and treatment of attention-deficit/hyperactivity disorder (ADHD) among adult patients are on the rise. The findings from longitudinal research indicate that clinically significant symptoms persist into adulthood for many children diagnosed with ADHD. Many other patients' symptoms are not identified until they are in active treatment for other complaints in adulthood. Thus, psychotherapists are increasingly likely to encounter adult patients with ADHD-related issues. However, the same core symptoms of inattention, impulsivity, and hyperactivity that create functional problems in patients' lives also interfere with the effectiveness of psychotherapy. The aim of this article is to summarize the accumulated clinical and empirical wisdom about how to effectively adapt psychotherapy to meet the needs of adult patients with ADHD. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Patients with traumatic brain injury referred to a rehabilitation and re-employment programme: social and professional outcome for 508 Finnish patients 5 or more years after injury

We studied influence of age and educational level before injury on the social and vocational outcome among a group of traumatic brain injury (TBI) patients with post-injury problems in their education and employment. Patients with TBI, followed up for at least 5 years, and who were admitted to a rehabilitation and re-employment programme, were selected for evaluation of long-term outcome. We used the Glasgow Coma Scale (GCS) scores at the time of emergency admission to the hospital to measure brain injury severity. Age at the time of TBI and educational status before TBI were correlated with the outcome measures at the end of follow-up separately in each category of brain injury severity. The study was carried out at the Kauniala outpatient neurological clinic, which specializes in brain injuries in Finland; it works closely with the Departments of Neurology and Neurosurgery at the Helsinki University Central Hospital. Main outcome measures were functional outcome measured by the Glasgow Outcome Scale (GOS), the educational level reached, and post-injury occupation, as well as the incapacity for work at the end of follow-up. In the severe category of brain injuries, children 7 years or younger at the time of injury suffered severe disability as measured by the GOS scores more often than did the older age groups (p = 0.010, chi 2). They were less often capable of independent employment (p = 0.011, chi 2) than the children injured at the age of 8-16. Patients with a higher education usually had a better outcome. In the category of mild brain injuries the majority of the patients, regardless of age, recovered well according to the GOS, and were capable of independent employment at the end of follow-up. Our patients were selected from the TBI population as survivors with problems in education and re-employment. Those with severe injury sustained early in life (childhood and early teens) coupled with poor educational attainment had relatively worse social and vocational outcome; better outcomes were enjoyed by those severely injured individuals whose injuries were sustained later (late teens or early adulthood). In the groups of patients with moderate and mild brain injuries such a relationship was not found between age or pre-injury education and outcome.     

Anorexia nervosa in children: a follow-up study

Thirty children seen between 1954 and 1970 with the diagnosis of anorexia nervosa were contacted between five and twenty years after initial treatment. Patients outcomes in terms of education, weight in adulthood, medical problems, marriage, psychiatric treatment, and recurrence of anorexia were surveyed. Results corroborate those of earlier studies suggesting that adjustment in adulthood is related to personality type.     

Perspective of a pediatric nephrology program: an 18 year retrospective

We analyzed the patient profile in a pediatric nephrology training program, along with data collected over an 18 year period, to determine whether there is merit in the proposition that clinical training can be obtained equally well in internal medicine nephrology training programs. We also compared the rate of patient referral in an U.S. metropolitan area with a population of 1.2 million, in the first 9 years without the "gatekeeper" health insurance system and the next 9 years with managed care competition. Finally, we discussed guidelines for renal biopsy in the child and approaches to treatment as practiced in a pediatric nephrology program of almost two decades. We used the same NIH clinical data form throughout the 18 years of data collection to record clinical, laboratory and biopsy diagnosis, dialysis/ transplantation and other treatment data of patients entering our outpatient and inpatient services. Between 1977 and 1996, 3,150 new patients were examined for disorders related to the kidney. Twenty-one per cent of the patients were in the first year of life and 50% were younger than seven years of age. The majority of the 389 percutaneous renal biopsies were done in children under 10 years of age. In addition, almost half of the 112 pediatric dialysis/transplant patients presented before 10 years of age. Thus, the majority of patients were in the early years of life, with an unique pattern of renal diseases and issues regarding therapy which are clearly different from adulthood. Therefore we concluded that the existing data did not support the proposition that pediatric nephrology training be absorbed into internal medicine nephrology programs. The introduction of managed care competition did not affect the rate of patient enrollment. In fact, the rate of referrals in the latter 9 years paralleled the first 9 years. The factors which contribute to this outcome are discussed. Such data should be useful to those trying to meet the challenges of this competitive era. Finally, we discussed guidelines for renal biopsies in children and approaches to specific diseases.     

A review of the causes and treatment of bacterial and allergic conjunctivitis

The most common causes of ocular inflammation are allergic or infectious in origin. A presumptive diagnosis can often be made through a comprehensive patient history and evaluation of presenting signs and symptoms, although the constellation and intensity of clinical findings may vary. Patients with allergic conjunctivitis often have itchy, red eyes, whereas patients with bacterial conjunctivitis often give a history of morning crusting and difficulty opening the eyelids. The treatment of patients with allergic conjunctivitis includes avoiding the offending allergen and applying topical antihistamines, mast cell stabilizers, or nonsteroidal anti-inflammatory agents. Streptococcus pneumoniae and Haemophilus influenzae are responsible for most cases of bacterial conjunctivitis in children. Staphylococcus species is the predominant organism in adults. Therefore, the treatment of patients with bacterial conjunctivitis consists of an antimicrobial agent with a broad spectrum of activity against most susceptible pathogens. Other causes of inflammation need to be considered in patients with atypical clinical signs and symptoms and in patients who do not respond to presumptive therapy.     

Specific extreme behaviors of postinstitutionalized Russian adoptees.

Behavior problems reported by parents on the Child Behavior Checklist (Achenbach & Rescorla, 2001) were studied in 316 children adopted from social-emotionally depriving Russian institutions as a function of age at adoption (18-month cutoff), age at assessment (6–11 and 12–18 years), and gender. Children adopted after 18 months had higher problem scores predominately when assessed at 12–18 years. Although most children had no behavior problems, 59.0% of later adoptees assessed in adolescence had at least 1 subscale score and 48.7% had 2 or more subscale scores in the clinical/borderline range. A factor analysis of items that significantly related to age at adoption for older children revealed 1 broad factor, encompassing different antisocial behaviors, social difficulties, and withdrawal. These results may suggest a somewhat broader deficiency produced by orphanage experience beyond the first 18 months of life that underlies a range of behavioral problems displayed later. (PsycINFO Database Record (c) 2011 APA, all rights reserved)     

A symptom profile of hospitalization-requiring depression among the elderly related to clinical subgroups. A way to improve diagnostics

The objectives were to study clinical symptoms of major depression in later life by using relevant assessment scales of psychopathology, behavioural disorders, and physical functioning. The evaluations on admission and at discharge were based on interdisciplinary observations and interview of patients. The study was carried out during twelve months in a psychogeriatric university department and encompassed 202 patients. All (N = 80) (40%) patients who had a principal diagnosis of major depression are accounted for. Mean age was 79.5 years. Results of the assessments all showed significant improvements (p = 0.0000-0.0024). The overall results of the assessments show that the key symptom of sadness is often missing, muted, or overshadowed by other symptoms, and that behavioural disturbancies and functional disability may be important symptoms in geriatric depression. In conclusion: adequate treatment of major depression in the elderly significantly improves psychopathology, behavioural disorders and physical functioning. When dealing with mental disorders in this age group, awareness of the five clinical presentations in major geriatric depression, i.e. dementoform, somatoform neurotiform, eretic and classic geriatric depression, may target the diagnostic procedure.     

A novel simple method for quantifying bacteria from endotracheal aspirates

Two children with neuronal migration disorders and unexpectedly mild clinical symptoms are reported. The first patient was followed with the diagnosis of febrile convulsion and seizures associated with fever for 14 years. Computed tomography scans were normal. Although periodic slow waves of the left parietal cortex were detected on the first two electroencephalograms, his latest examination was normal. Magnetic resonance imaging performed at 16 years of age disclosed a left parietal schizencephaly extending between the parietal cortex and corpus callosum. The second patient was followed with the diagnosis of febrile convulsion for 2 years and later experienced afebrile seizures. On his latest visit, a posterior parietal pachygyric region and a parieto-occipital island heterotopia on the left hemisphere were diagnosed by magnetic resonance imaging. We believe that review of these patients, at the mildest end of the clinical spectrum of neural migration disorders, will contribute to a new understanding of the correlation between clinical and pathologic findings of neuronal migration disorders.     

An overview of dental care for the young patient: 1. Introduction, priorities and disease prevention

The provision of high-quality dental care for children presents a challenge for the general dental practitioner. The aim must be to ensure that young patients reach adulthood with optimal dental health. This series of three articles takes an overview of good practice in the provision of dental care for children, with emphasis on disease prevention, early diagnosis of dental disease and deformity and appropriate treatment measures. This first paper discusses preventive measures and highlights the need to apply them, particularly for patients at high risk of dental disease or with special needs in relation to dentistry.     

Predicting attention-deficit/hyperactivity disorder and oppositional defiant disorder from preschool diagnostic assessments.

The present study examined the power of measures of early preschool behavior to predict later diagnoses of attention-deficit/hyperactivity disorder (ADHD) and oppositional defiant disorder (ODD)/conduct disorder (CD). Participants were 168 children with behavior problems at age 3 who underwent a multimethod assessment of ADHD and ODD symptoms and were followed annually for 3 years. Fifty-eight percent of 3-year-old children with behavior problems met criteria for ADHD and/or ODD/CD 3 years later. Using a diagnostic interview and rating scales at age 3, the authors could accurately predict later diagnostic status for 3/4 of children for ADHD and for 2/3 of children for ODD/CD. Predictive power of the best models did not increase significantly at age 4 and age 5 compared with age 3. Results provide support for the validity of early diagnoses of ADHD, although caution is needed in making diagnoses because a significant minority of children with early hyperactivity and inattention do outgrow their problems. (PsycINFO Database Record (c) 2010 APA, all rights reserved)     

Topography of four classes of Kenyon cells in the mushroom bodies of the cockroach

The authors compared 218 black and 68 white nursing home patients with dementia for differences in the prevalence, recognition, and treatment of depression. There were no racial differences in depressive symptoms, but whites were significantly more likely to receive a diagnosis of "possible depression" and there were few racial differences in clinical, social, or demographic factors associated with depression. Depression was often unrecognized and undertreated in both racial groups; several depression instruments developed for use in dementia had good reliability and validity among blacks; and there were no significant differences in depressive symptoms or diagnosis between U.S.-born and Caribbean-born black patients. The absence of any appreciable interracial or intraracial differences in depression symptoms or diagnoses may reflect uniformity in nursing home selection criteria or lessening of mood differences that may have existed before admission.     

Treatment of myocardial ischemia and myocardial infarction in the elderly

The diagnosis of coronary artery disease in the elderly is problematic because older patients often present atypical symptoms or are asymptomatic. Once coronary disease is diagnosed, the proper course of treatment is not always clear, since few studies have focused on patients older than 65 years. Moreover, older patients often have medical conditions that may aggravate coexisting cardiovascular problems or interfere with conventional pharmacotherapy. For these reasons many physicians who treat cardiovascular problems aggressively in younger patients are reluctant to do so in older individuals. There is considerable evidence, however, that older patients could benefit as much or more from aggressive therapy because of their greater risk of mortality from myocardial ischemia and infarction.