Psychotic disorder and focal epilepsy in a left-handed patient with chromosome XYY abnormality.

OBJECTIVE: To discuss the relationship between XYY chromosome abnormality, psychiatric disorders and epilepsy. METHOD: Single case report. RESULTS: A 34-year-old man with 47, XYY karyotype and normal intelligence was followed-up at a neuropsychiatric clinic for over 30 years. He was first seen at age 3 years with a history of delayed motor and language development and an immunodeficiency syndrome. At age 8 years he developed refractory focal epilepsy, and in late adolescence he started to exhibit increasingly prominent obsessive thoughts, paranoid ideation, and aggressive sexual fantasies and behaviour. CONCLUSIONS: When interpreted within the context of previous literature reports, this case suggests a pathophysiological link between XYY chromosome abnormality, characteristic psychiatric symptoms and epilepsy disorder.

Late diagnosis in severe and mild intellectual disability in adulthood.

BACKGROUND: The diagnosis of intellectual disability (ID) is highly dependent on a comprehensive personal and family medical history, a complete physical examination and a careful developmental assessment of the patient. Our study intended to: (1) classify the aetiology of mild and severe ID in an adult population of 140 Italian subjects; (2) evaluate the frequency of associated medical conditions; (3) evaluate the age of diagnosis in both groups; and (4) underline the importance of aetiological diagnosis for adult ID patients also. METHODS: The study involved 140 consecutive adult Italian ID inpatients and outpatients neurologically investigated at the Neurological Institute C. Mondino of Pavia Service for Mental Retardation. A total of 80 patients had mild ID (MID group) (39 females, 41 males), mean age 34 years (range 19-61 years), mean IQ = 64 (range 51-75), and 60 had severe ID (SID group) (32 females, 28 males), mean age 30 years (range 19-69 years). They underwent a complete diagnostic work-up that comprised prenatal, perinatal and postnatal history, physical examinations, laboratory investigations, genetic survey and neuroradiological investigations to determine the aetiology of ID and to evaluate the presence of associated medical conditions. RESULTS: ID aetiology was classified as prenatal in 34% of the MID and 28% of the SID group. Perinatal and postnatal events were found in 6% of the MID and in 5% of the SID group. Associated medical conditions were found in 97 patients (47% MID and 26% SID). A genetic diagnosis was possible in 6% of patients above 20 years of age and in 5% of patients above 40 years. A diagnosis of cerebral dysgenesis was possible in 5% of patients above 20 years and 4% of patients above 40 years. CONCLUSIONS: A long interval between the diagnosis of ID and the aetiological definition can be observed in a significant percentage (24%) of our population, leading to unfortunate consequences of late diagnosis: late onset of a specific therapeutic program, genetic counselling that is frequently no more useful, and ineffective prenatal diagnosis, leading to the birth of other affected subjects (for familiar ID).

Psychiatric comorbidity and psychosocial stress in patients with tension-type headache from headache centers in Italy. The Italian Collaborative Group for the Study of Psychopathological Factors in Primary Headaches.

A multicenter study was carried out in 10 Italian Headache Centers to investigate the prevalence of psychosocial stress and psychiatric disorders listed by the IHS classification as the "most likely causative factors" of tension-type headache (TTH). Two hundred and seventeen TTH adult outpatients consecutively recruited underwent a structured psychiatric interview (CIDI-c). The assessment of psychosocial stress events was carried out using an ad hoc questionnaire. The psychiatric disorders that we included in the three psychiatric items of the fourth digit of the IHS classification were depressive disorders for the item depression, anxiety disorders for the item anxiety, and somatoform disorders for the item headache as a delusion or an idea. Diagnoses were made according to DSM-III-R criteria. At least one psychosocial stress event or a psychiatric disorder was detected in 84.8% of the patients. Prevalence of psychiatric comorbidity was 52.5% for anxiety, 36.4% for depression, and 21.7% for headache as a delusion or an idea. Psychosocial stress was found in 29.5% of the patients and did not differ between patients with and without psychiatric comorbidity. Generalized anxiety disorder (83.3%) and dysthymia (45.6%) were the most frequent disorders within their respective psychiatric group. The high prevalence of psychiatric disorders observed in this wide sample of patients emphasizes the need for a systematic investigation of psychiatric comorbidity aimed at a more comprehensive and appropriate clinical management of TTH patients.

Clinical and stabilometric monitoring in a case of cerebellar atrophy with vitamin E deficiency.

The authors describe a case of early onset ataxia with cerebellar atrophy and vitamin E deficiency, treated with alpha-tocopherol supplementation and physically rehabilitated by postural biofeedback. Clinical assessments, serum vitamin E levels and postural evaluation by means of a stabilometric platform continued for about 2 years and significant clinical improvement was recorded. Our study confirms that combined physical therapy and vitamin E supplementation may result in improvement of cerebellar function. Motor improvement is directly related to vitamin E serum levels, providing further confirmation that normal vitamin E levels are crucial for proper brain functions.

Psychiatric comorbidity in chronic daily headache.

Clinical evidence suggests that chronic daily headache (CDH) occurs in association with psychopathologies: previous studies have focused particularly on migraine. To evaluate this association, we studied, using the DSM-IIIR criteria, a population of 88 patients (18M, 70F) affected by CDH (mean duration 7.4 +/- 8.7 years). We documented the presence of a psychiatric disorder in 90% of this population. The most frequent diagnosis was a comorbidity of anxiety and mood disorders. The comorbidity of psychiatric disorders and headache has important implications as far as treatment is concerned.

[Television and eating disorders. Study of adolescent eating behavior]. / La televisione e i disturbi del comportamento alimentare. Un'indagine in età adolescenziale.

BACKGROUND: The media, mainly TV, play a significant social and cultural role and may affect the prevalence and incidence of eating disorders such as bulimia and anorexia nervosa. Their influence acts mainly by favoring a tall and thin body as the only fashionable for female adolescents: your social success depends primarily and totally by your physical appearance and you can, (and must), shape your body as you like better. Our research aims t analyze the attitude of adolescent people toward the TV and to investigate on: 1) time spent watching TV programs; 2) the influence of TV on the personal choices of goods to buy; 3) the ideal body images; 4) choice of TV programs. METHODS: Sixty-seven healthy adolescents (36 F-31 M) were included in our study as controls together with 24 female adolescents with eating disorders (DCA) diagnosed according to the DSM-IV and EAT/26 criteria. RESULTS: Our results show a psychological dependence of DCA adolescents from the TV (longer period of time spent watching TV programs, buying attitudes more influenced by TV advertising). The thin and tall body image is preferred by the DCA girls as well as by the controls; however the body appearance and proportions have a predominant and utmost importance only for the eating disorder females. The masculine subjects instead have a preference for a female and masculine opulent body appearance. CONCLUSIONS: To prevent the observed increase in prevalence and incidence of eating disorders among adolescents, it is appropriate to control the messages, myths and false hood propagated by media, TV in particular.

A record card for the study of Neuronal Hyperexcitability Syndrome.

Neuronal Hyperexcitability Syndrome (NHS) is a nosographic picture which is difficult to diagnose, due to the lack of specific standard diagnostic criteria. With slightly varying symptoms the syndrome has also been defined as Spasmophilia and Hyperventilation Syndrome. It is difficult to distinguish between NHS and panic attack disorder as there is considerable overlapping of symptomatology. We aimed to propose a standardized card which will be the first step toward a valid diagnosis of this complex neuropsychiatric problem. This card, which will be validated and of which the reliability will be evaluated, is proposed for clinical and research purposes. The card is made up of 6 parts (113 items) covering: personal data, pharmacological treatment, persistent diseases and related therapies, symptomatology trend, factors interfering with calcium-magnesium homeostasis and symptom assessment. The symptom assessment section is essential for the checking of diagnostic criteria and the earlier sections are important for the monitoring of other factors which can cause symptoms able to simulate NHS. There are also two special sections for recording laboratory tests and patients' psychic profiles.

Haemodynamic and neurohormonal responsiveness to different stress tests in mitral valve prolapse.

In this study the blood pressure, heart rate, plasma noradrenaline and plasma adrenaline responses to various forms of sympatho-neural stress were evaluated in patients with mitral valve prolapse (MVP). Sympathetic reactivity in different subgroups of MVP were related to the degree of ventricular arrhythmia. Thirty-eight patients with mitral valve prolapse and 17 healthy controls were studied. All underwent 24-h ECG recording, 2-D echocardiography, head-up tilt to 60 degrees, pressor tests (sustained handgrip, mental arithmetic, cold pressor) and psychological assessment. The blood pressure, noradrenaline and adrenaline response to stress in patients without premature ventricular contraction were similar to those of the controls. In patients with unifocal premature ventricular contraction (PVC) less than 300/h, responses were similar to normal but were associated with higher plasma noradrenaline levels in the basal state and a diminished response to isometric stress. In patients with more than 300/h unifocal premature ventricular contraction, pairs of premature ventricular contraction, or runs of ventricular tachycardia there were lower blood pressure values in the basal state with reduced blood pressure, heart rate and plasma noradrenaline and adrenaline responses to head-up tilt and sustained handgrip, but marked increases in blood pressure, heart rate and plasma noradrenaline levels during the cold pressor test. Our data suggest different degrees of autonomic involvement in mitral valve prolapse which may be related to the various degrees of arrhythmia which seem to contribute to their symptoms.

Age-related changes in excitability of nociceptive flexion reflex. An electrophysiological study in school-age children and young adults.

By stimulating the sural nerve at the retromalleolar level and recording EMG response from biceps femoris muscle two components can be evoked: RII (shorter latency, lower threshold, non-nociceptive) and RIII (longer latency, higher threshold, nociceptive). RIII reflex represents a useful tool for pain research in humans since a close correlation exists between the reflex threshold and that of pain. In our study, latency, amplitude, duration and threshold of RII and RIII reflexes were investigated in school-age children (aged 7-14 years) and young adults. RIII threshold was significantly lowered in children, while the other parameters were similar in both groups. Our data suggest the existence of a reduced inhibitory descending control in nociceptive spinal neurones in children.

Familial amyloid polyneuropathy: report of an autopsy case with neuropathy, vitreous opacities and polycystic kidney.

A 26-year-old Italian male with an unusual form of familial amyloidosis was investigated. The present case does not seem to fit into any of the forms of familial amyloidosis known for the different combinations of organ involvement. The patient developed renal failure, vitreous opacities and a sensorimotor neuropathy with trophic changes in the lower limbs. Two sural-nerve biopsies performed 5 years from each other showed a progressive loss of nerve fibers and amyloid deposits in the endoneurium. The autopsy revealed bilateral adult congenital polycystic kidney with wide deposition of amyloid in the interstitium and in the glomerular tufts. Amyloid deposits were also seen in the vitreous and in the cranial nerves. As in the other forms of familial amyloidosis, potassium permanganate treatment did not modify the Congo red affinity of amyloid deposits and immunocytochemical studies revealed that the amyloid reacted with antibodies against prealbumin.

[Alcohol withdrawal syndrome. Effects of short-term treatment with dapiprazole]. / Sindrome da astineza alcoolica. Effetti del trattamento "short-term" con dapiprazolo.

A study on dapiprazole, a new psychotropic agent, in the treatment of patients during the alcohol withdrawal syndrome, is reported. On the basis of evaluations made on the severity of the physical and psychic symptoms of withdrawal, the conclusion is drawn that the new psychotropic agent, administered at gradually increasing doses of 40 to 90 mg/kg for 7 days, completely controls the clinical symptomatology at least in 70% of the cases treated.

Electroretinographic and visual evoked potential abnormalities in myotonic dystrophy.

Pattern visual evoked potentials (VEPs) and electroretinograms (ERGs) were recorded in 20 patients with myotonic dystrophy. Thirteen out of 20 cases presented both VEP and ERG abnormalities, 3 only ERG alterations, 2 only abnormal VEPs. A significant inverse correlation between P100 latencies and b1 wave amplitude was observed, while N1-P100 and b1 wave amplitude exhibited a parallel change. These data suggest that retinal abnormalities may have a role in inducing subclinical visual pathway alterations in myotonic dystrophy.

[The leukemic child after therapy. Psychological aspects]. / Il bambino leucemico in stop-terapia. Aspetti psichici.

Thirty children in remission, at least one year after completing chemotherapy for Acute Lymphoblastic Leukemia, were assessed using general psychological measures. The Wechsler Intelligence tests were administered to evaluate their intellectual function: no significant reduction was found in overall IQ score. Only four of the patients, who presented neurological complications during the treatment, performed at lower levels. The group as a whole functioned poorly on tasks involving speeded performances and long-term memory. The age at diagnosis, the duration of the illness, the cranial irradiation and/or intrathecal-chemotherapy did not show any negative effects on the intellectual performance. Psycho-social adaptation was satisfactory: our patients do not show neurotic or psychotic disorders, but only affective disturbances (insecurity, irritability, poor self-perception, instability and depression). Familial adaptation was disturbed in 60% of the children and difficulty in socializing with peers was present in 57% of cases: the latter, in our experience, is related to poor self perception, present in 75% of our patients. We have found a more inadequate psycho-social adaptation in children who have not received any communication of their illness. Psychologic support can be of value for the child and his family in adapting to their difficult situation and in promoting a normal personality development of the child.

Immunological findings in epileptic and febrile convulsion patients before and under treatment.

Serum immunoglobulin levels of 86 epileptic patients have been evaluated in order to investigate the relationship between epilepsy, antiepileptic drugs and humoral immunity. The results confirm a high incidence of immunological disorders in the epileptic and febrile convulsion patients. These abnormalities were not related to clinical type of epilepsy nor to the therapy; the common feature seems the early onset of seizures and antiepileptic treatment.