II. the Phenomenology of Childhood Psychoses

1971 ◽  
Vol 118 (545) ◽  
pp. 385-395 ◽  
Author(s):  
I. Kolvin ◽  
C. Ounsted ◽  
M. Humphrey ◽  
A. McNay

This paper analyses the clinical picture in 80 children referred to the Park Hospital, Oxford, or to the Newcastle department of child psychiatry, and admitted for intensive assessment of their psychosis. All were seen by two psychiatrists and nearly three quarters of them in Oxford. The diagnostic criteria, and the differentiation by age of onset into infantile psychosis (I.P.) and late onset psychosis (L.O.P.) were discussed in the previous paper (Kolvin, I).

1971 ◽  
Vol 118 (545) ◽  
pp. 415-419 ◽  
Author(s):  
I. Kolvin ◽  
M. Humphrey ◽  
A. McNay

This is the sixth and final paper of a series studying various symptomatic, physical and social aspects of a sample of 47 cases of infantile psychosis (I.P.) and 33 cases of late onset psychosis (L.O.P.). They were seen at the Park Hospital for Children, Oxford, and the Newcastle Child Psychiatry Unit.


2019 ◽  
Vol 8 (4) ◽  
pp. 170-176
Author(s):  
Anna Roszmann ◽  
◽  
Mikołaj Hamerski ◽  
Marcelina Skrzypek-Czerko ◽  
◽  
...  

Introduction. Pompe disease, a severe metabolic myopathy, is caused by mutations in the gene coding for acid alphaglucosidase (GAA), what lead to intralysosomal accumulation of glycogen in all tissues, most notably in skeletal muscles. Pompe disease was the first documented lysosomal storage disease, nowadays we know around 60 similar disorders. Aim. Presentation of the clinical picture of a man with Pompe’s disease. Case Report. A man at the age of 40, diagnosis of the Pompe’s disease was made only at the age of 31. The first symptoms, indicating the patient’s development of the disease, were already present in the early school age. At first, the clinical picture presented by the patient led to the diagnosis of muscular dystrophy. Discussion. Pompe disease presents as a continuum of clinical phenotypes that differ by age of onset, severity, and organ involvement. Pompe disease affects people of all ages with varying degrees of severity. Two main broad types are recognized based on the onset of symptoms and the presence or absence of cardiomyopathy. Infantile onset Pompe disease (IOPD) as one, and the most severe for mod the disease. Other and less destructive is late-onset Pompe disease (LOPD) manifests any time after 12 months of age. The disease can be successfully treated by enzyme replacement therapy with alglucosidase alfa that was approved for human use in 2006. Conclusions. In big importance is nurses role as educators and support for the patients during their hospitalizations for medicine infusions twice a month. It time when the knowledge and significance of proper life style can be discussed and implemented to empower the patients. (JNNN 2019;8(4):170–176) Key Words: Pompe’s disease, treatment, diagnosis, care


1971 ◽  
Vol 118 (545) ◽  
pp. 381-384 ◽  
Author(s):  
I. Kolvin

Until the last decade there was considerable confusion about the nosology of childhood psychoses. As Kanner (1958) has pointed out, certain psychodynamically orientated writers (Szurek, 1956; Beres, 1956) have eschewed the important operation of differential diagnosis. This has led to the notion of ‘equality of schizophrenias' (Darr and Worden, 1951) and thus to the idea of a single psychosis of childhood. The controversy over this approach has now waned in the face of empirical evidence from aetiological, phenomenological and follow-up studies, and many authors have stressed the importance of age of onset in their typologies or in their attempts at a more comprehensive classification (Kanner and Lesser, 1958; Mahler et al., 1949, 1952; Bender, 1947, 1959; Anthony, 1958, 1962, and Eisenberg, 1967). As this is also central to the present study it merits examination in greater detail.


1971 ◽  
Vol 118 (545) ◽  
pp. 407-414 ◽  
Author(s):  
I. Kolvin ◽  
C. Ounsted ◽  
M. Roth

A series of recent papers (Creak, 1961, 1963; Rutter, 1966; Brown, 1963; Lotter, 1967; Schain and Yannet, 1960) have provided evidence of degrees of cerebral dysfunction in infantile autism (Kanner, 1943) and other infantile psychoses. They have demonstrated that groups of cases of infantile psychoses satisfying broadly similar diagnostic criteria have in their backgrounds a variable frequency of cerebral insult and abnormal discharge in the EEC The diagnostic criteria in such series are of crucial importance. Imprecision and vagueness hamper comparisons between series. In childhood psychoses some investigators have excluded those cases in which there was any history or clinical evidence of organic features in an attempt to obtain a ‘pure’ group. This technique, while valid in delineating a syndrome, is handicapping to subsequent etiological study. For these reasons the present authors have used only age of onset and behavioural features as their ascertainment criteria it was a behavioural rather than an aetiological diagnosis.


Author(s):  
Е.П. Нужный ◽  
Н.Ю. Абрамычева ◽  
Е.Г. Воробьева ◽  
Е.О. Иванова ◽  
Ю.А. Шпилюкова ◽  
...  

Синдром CANVAS (мозжечковая атаксия, невропатия и вестибулярная арефлексия) - аутосомно-рецессивная атаксия с поздним дебютом, обусловленная носительством биаллельной экспансии (AAGGG)n во 2-м интроне гена RFC1. До настоящего момента отсутствуют сведения о распространенности данного заболевания в российских семьях. Нами был проведен поиск биаллельной экспансии AAGGG-повторов у 35 российских пациентов с поздней мозжечковой атаксией. Верифицированы 5 пациентов (14,3%) с синдромом CANVAS и характерной клинической картиной. CANVAS (cerebellar ataxia, neuropathy and vestibular areflexia) is a late-onset autosomal recessive ataxia due to biallelic (AAGGG)n repeat expansion in the 2nd intron of the RFC1 gene. There is no information on the CANVAS prevalence in Russian families. We searched for biallelic expansion of AAGGG repeats in 35 Russian patients with late-onset cerebellar ataxia. Five patients (14.3%) with CANVAS syndrome and a characteristic clinical picture were verified.


2020 ◽  
Vol 63 (6) ◽  
pp. 40-50
Author(s):  
Hugo Enrique Hernández-Martínez ◽  
Marta Georgina Ochoa-Madrigal

The diagnosis and treatment of bipolar disorders (BPD) in children is currently one of the biggest challenges and area of controversy in the field of child psychiatry. Bipolar disorders encompass several affective disorders that involve alterations in the degree of activity, content and form of thinking that are characterized by biphasic episodes of mood. This group of disorders affect approximately 1% of the world population and begin in youth (the average age of onset of ~20 years). However, in some studies a delay of 5 years has been observed since the presentation of symptoms at the beginning of the treatment. Currently, the diagnosis of TBP in children and adolescents should be based on the same set of symptoms applied to adults, as well as the general principles of the treatment. The research carried out around this disorder has resulted in changes in the conceptualization and approach of this pathology, now conceived as a group of disorders that share changes in mood and other cardinal symptoms, of a chronic and progressive nature that impacts in a negative way in those who suffer them. Key words: Bipolar disorder; childhood; mania; hypomania; depression.


Cells ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 631
Author(s):  
Karin Alvarez ◽  
Alessandra Cassana ◽  
Marjorie De La Fuente ◽  
Tamara Canales ◽  
Mario Abedrapo ◽  
...  

Colorectal cancer (CRC) is the second most frequent neoplasm in Chile and its mortality rate is rising in all ages. However, studies characterizing CRC according to the age of onset are still lacking. This study aimed to identify clinical, pathological, and molecular features of CRC in Chilean patients according to the age of diagnosis: early- (≤50 years; EOCRC), intermediate- (51–69 years; IOCRC), and late-onset (≥70 years; LOCRC). The study included 426 CRC patients from Clinica Las Condes, between 2007 and 2019. A chi-square test was applied to explore associations between age of onset and clinicopathological characteristics. Body Mass Index (BMI) differences according to age of diagnosis was evaluated through t-test. Overall (OS) and cancer-specific survival (CSS) were estimated by the Kaplan–Meier method. We found significant differences between the age of onset, and gender, BMI, family history of cancer, TNM Classification of Malignant Tumors stage, OS, and CSS. EOCRC category was characterized by a family history of cancer, left-sided tumors with a more advanced stage of the disease but better survival at 10 years, and lower microsatellite instability (MSI), with predominant germline mutations. IOCRC has shown clinical similarities with the EOCRC and molecular similarities to the LOCRC, which agrees with other reports.


1987 ◽  
Vol 9 (1) ◽  
pp. 13-14
Author(s):  
Frederick Hecht

Medical genetics is currently enjoying a time of exploration and discovery. Huntington disease has long been of interest in adult medicine. The onset of clinical signs and symptoms is usually delayed until midadulthood. It may seem strange in this context to focus on Huntington disease, but advances in molecular genetics have brought Huntington disease into the purview of pediatrics. These advances in molecular genetics make it possible to detect Huntington disease in a preclinical stage at or even before birth. The molecular approach does not replace prior approaches to Huntington disease but is synergistic and provides a model of the new genetics. Huntington disease is synonymous with Huntington chorea. It is named after George Huntington who, like his father and grandfather before him, studied the disease in families on Long Island, NY. Huntington disease is a more common hereditary disorder than phenylketonuria, which occurs in one of about 10,000 newborns in the United States. By contrast, about one in 2,000 persons is at risk for Huntington disease. Although most cases start clinically in midadulthood, usually between 35 and 42 years of age, there is great variability in age of onset. About 3% of cases are diagnosed as juvenile Huntington disease before the age of 15 years. Late onset is well known after 50 years of age.


2021 ◽  
Vol 26 (5) ◽  
pp. 16-23
Author(s):  
A. A. Tappakhov ◽  
T. Ya. Nikolaeva ◽  
T. E. Popova ◽  
N. A. Shnayder

Alzheimer’s disease (AD) is the most common cause of dementia in the population. Late onset AD has a classic clinical picture with short-term memory deficit, apraxia and agnosia. Patients with early-onset AD may have an atypical clinical picture which complicates diagnosis. Atypical AD variants include the logopenic variant of primary progressive aphasia, posterior cortical atrophy, behavioral, biparietal, and cortico-basal variants. These variants have pathomorphological signs similar to classical AD, but at an early stage they are characterized by focal atrophy which explains their clinical polymorphism. This article provides a review of the current literature on atypical types of AD and presents a clinical case of a 62-year-old patient in whom the disease debuted with prosopagnosia due to focal atrophy of the temporo-occipital regions of the non-dominant hemisphere.


1983 ◽  
Vol 28 (2) ◽  
pp. 102-104 ◽  
Author(s):  
Martin G. Cole

Thirty-eight elderly patients with primary depressive illness (Feighner criteria) were followed up for 7–31 months. In the absence of persistent organic signs and severe physical illness, age of onset (first depressive episode after 60) but not age was significantly related to course of illness. Compared to early onset depressives, late onset depressives were more likely to remain completely well during the follow-up period and less likely to have frequent or disabling relapses.


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