Evoluzione dei criteri diagnostici dei disturbi del comportamento alimentare (1952-2013)

In the fall of 1868, Sir William Gull provided the first modern description of anorexia nervosa described as “a peculiar form of disease that almost always occurs in young women and characterized by extreme emaciation”. Six years later, he proposed to define it by the term Anorexia Nervosa (Apepsia Hysterica, Anorexia Hysterica). Almost simultaneously Charles Lasègue describes the same pathology, of which he emphasizes the “conceptual anomaly”: the main symptom, the weight loss, is pursued deliberately. This paper shows the changes in the diagnostic definition of food behaviour disorders in the various editions of the DSM (Diagnostic and Statistical Manual of mental disorders): from DSM-I (1952) to DSM-V (2013), with reference to different categories of patients, also considering the different ages of life.Nell’autunno del 1868, Sir William Gull fornì la prima de-scrizione moderna della anoressia nervosa segnalata come “una forma peculiare di malattia che si presenta quasi sempre in giovani donne, e caratterizzata da un’estrema emaciazione”. Sei anni più tardi, propose di definirla con il termine Anorexia Nervosa (Apepsia Hysterica, Anorexia Hysterica). Pressoché contemporaneamente Charles Lasègue descrive la stessa patologia, di cui sottolinea la “anomalia concettuale”: il sintomo principale, il dimagramento, viene perseguito deliberatamente. Il presente contributo illustra i cambiamenti intervenuti nella definizione diagnostica dei disturbi del comportamento alimentare nelle varie edizioni del DSM (Diagnostic and Statistical Manual of mental disorders): dal DSM-I (1952) al DSM-V (2013), con riferimento a diverse categorie di pazienti, anche in considerazione delle diverse età della vita

Late onset myoclonic epilepsy in Down syndrome and dementia

Specific forms of epilepsy may be found at various ages in Down Syndrome (DS) and a sharp increase in the incidence of epilepsy with age has been documented. A specific type of myoclonic epilepsy associated with cognitive decline has been reported as “senile myoclonic epilepsy” or “late onset myoclonic epilepsy in DS” (LOMEDS). We report a new case of LOMEDS, documented by clinical and neurophysiological evaluation and psychometric assessment (DSDS and DMR). MF, male, affected by DS, was referred in 2004 at 40 years of age; he had no personal or familial history of epilepsy. Since one year, the patient presented cognitive deterioration, characterized by regression of language abilities, loss of memory, and loss of sphincters control. A brain TC showed mild brainstem and sub-cortical atrophy. In 2006, myoclonic jerks involving upper limbs occurred mainly after awakening. EEG showed a low voltage 8 Hz background activity with diffuse slow activity, intermingled with spikes or polyspikes, persisting during NREM sleep. MF was initially treated with clonazepam and after with topiramate, resulting in partial seizures control. MRI (2008) demonstrated diffuse brain atrophy, associated with marked ventricular enlargement. At the psychometric evaluation, onset of dementia was evident late in 2004, with transition to the middle stage in 2006. Last assessment (2009) showed the clinical signs of a late stage of deterioration, with loss of verbal abilities and autonomous ambulation. Using levetiracetam till 2,000 mg/die, myoclonic jerks decreased but are still present every day after awakening. On the EEG slow and poorly organized background activity with bilateral polyspike-wave discharges was recorded. Therefore, we documented a parallel progression of dementia and myoclonic epilepsy in a DS subject

Life span development in genetic disorders : behavioral and neurobiological aspects/ Edit.: Annapia Verri

vi, p. 236: ill.; 30 c

Life span development in genetic disorders : behavioral and neurobiological aspects/ Edit.: Annapia Verri

vi, p. 236: ill.; 30 c

Life span development in genetic disorders : behavioral and neurobiological aspects/ Edit.: Annapia Verri

vi, p. 236: ill.; 30 c

Life span development in genetic disorders : behavioral and neurobiological aspects/ Edit.: Annapia Verri

vi, p. 236: ill.; 30 c

Referential Choice in the Narratives of Italian Speakers with Klinefelter Syndrome

Klinefelter Syndrome (KS) is a genetic disorder characterized by an uneven neuro-linguistic profile. Whereas cognitive abilities appear to be within the normal range, KS patients often show poor linguistic abilities and language-based learning disorders. Although it has been proposed that KS can be considered a genetic model of language impairment, it is not yet well established whether speakers with KS are impaired in specific psycholinguistics aspects, such as reference production. The choice of an adequate referential expression (whether a full noun phrase, a null or overt pronoun, etc.) involves the use of memory mechanisms to represent the characters and actions involved, but also the ability to judge the attention and the knowledge of the hearer.The present work focuses on KS speakers’ ability to report a story based on a Sylvester and Tweety cartoon (Arnold et al., 2009). We examine the ability to choose an appropriate referent (overt pronouns vs. null pronoun vs. full noun phrase) made during a narrative by Italian adolescents and young adults with KS (n = 8) and age-matched typically developing controls. In addition, we administered to each participant a full battery of cognitive and linguistic tests.Overall our results indicate that the correct use of referential expressions did not appear to be significantly predicted by the cognitive level of the speakers. Therefore the ability to choose an appropriate referential expression is preserved in KS whereas receptive vocabulary and comprehension skills are significantly lower as compared to controls

Late onset myoclonic epilepsy in Down syndrome and dementia

Specific forms of epilepsy may be found at various ages in Down Syndrome (DS) and a sharp increase in the incidence of epilepsy with age has been documented. A specific type of myoclonic epilepsy associated with cognitive decline has been reported as “senile myoclonic epilepsy” or “late onset myoclonic epilepsy in DS” (LOMEDS). We report a new case of LOMEDS, documented by clinical and neurophysiological evaluation and psychometric assessment (DSDS and DMR). MF, male, affected by DS, was referred in 2004 at 40 years of age; he had no personal or familial history of epilepsy. Since one year, the patient presented cognitive deterioration, characterized by regression of language abilities, loss of memory, and loss of sphincters control. A brain TC showed mild brainstem and sub-cortical atrophy. In 2006, myoclonic jerks involving upper limbs occurred mainly after awakening. EEG showed a low voltage 8 Hz background activity with diffuse slow activity, intermingled with spikes or polyspikes, persisting during NREM sleep. MF was initially treated with clonazepam and after with topiramate, resulting in partial seizures control. MRI (2008) demonstrated diffuse brain atrophy, associated with marked ventricular enlargement. At the psychometric evaluation, onset of dementia was evident late in 2004, with transition to the middle stage in 2006. Last assessment (2009) showed the clinical signs of a late stage of deterioration, with loss of verbal abilities and autonomous ambulation. Using levetiracetam till 2,000 mg/die, myoclonic jerks decreased but are still present every day after awakening. On the EEG slow and poorly organized background activity with bilateral polyspike-wave discharges was recorded. Therefore, we documented a parallel progression of dementia and myoclonic epilepsy in a DS subject

Case Report A Precocious Cerebellar Ataxia and Frequent Fever Episodes in a 16-Month-Old Infant Revealing Ataxia-Telangiectasia Syndrome

Ataxia-telangiectasia (AT) is the most frequent progressive cerebellar ataxia in infancy and childhood. Immunodeficiency which includes both cellular and humoral arms has variable severity. Since the clinical presentation is extremely variable, a high clinical suspicion will allow an early diagnosis. Serum alpha-fetoprotein is elevated in 80-85% of patients and therefore could be used as a screening tool. Here, we present a case of a 5-year-old female infant who was admitted to our department at the age of 16 months because of gait disorders and febrile episodes that had begun at 5 months after the cessation of breastfeeding. Serum alfa-fetoprotein level was elevated. Other investigations showed leukocytopenia with lymphopenia, reduced IgG 2 and IgA levels, and low titers of specific postimmunization antibodies against tetanus toxoid and Haemophilus B polysaccharide. Peripheral lymphocytes subsets showed reduction of T cells with a marked predominance of T cells with a memory phenotype and a corresponding reduction of naïve T cells; NK cells were very increased (41%) with normal activity. The characterization of the ATM gene mutations revealed 2 specific mutations (c.5692C > T/c.7630-2A > C) compatible with AT diagnosis. It was concluded that AT syndrome should be considered in children with precocious signs of cerebellar ataxia and recurrent fever episodes