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Multisystem Developmental Disorder
Multisystem developmental disorder (MSDD) is a term used by Stanley Greenspan to describe children under age 3 who exhibit signs of impaired communication as in autism, but with strong emotional attachments atypical of autism. It is described in the DC:0-3R manual as an optional diagnosis for children under two years of age. Other uses of the term The term ''multisystem developmental disorder'' has also been used to describe various developmental disorders. These include: *Alagille syndrome, an autosomal dominant disorder with a wide range of features and manifestations. Its five most significant features are chronic cholestasis, a condition where bile cannot flow from the liver to the duodenum, occurring in 95% of cases; heart abnormalities (over 90%); butterfly vertebrae; posterior embryotoxon and a distinctive face (prominent forehead, deep-set eyes, and a pointed chin). * Rubinstein-Taybi syndrome, a syndrome characterized by broad thumbs, facial abnormalities, and big toes a ...
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Stanley Greenspan
Stanley Greenspan (June 1, 1941 – April 27, 2010) was a clinical professor of Psychiatry, Behavioral Science, and Pediatrics at George Washington University Medical School and a practicing child psychiatrist. He was best known for developing the influential floortime approach for treating children with autistic spectrum disorders and developmental disabilities.David Corcoran"Stanley I. Greenspan, Developer of ‘Floor Time’ Teaching, Dies at 68" Obituary, ''The New York Times'', 2010 May 04. He was Chairman of the Interdisciplinary Council on Developmental and Learning Disorders and also a Supervising Child Psychoanalyst at the Washington Psychoanalytic Institute. A graduate of Harvard College and Yale Medical School, Dr. Greenspan was the founding president of Zero to Three: National Center for Infants, Toddlers, and Families and former director of the National Institute of Mental Health's Clinical Infant Developmental Program and Mental Health Study Center. General The dev ...
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Autism
The autism spectrum, often referred to as just autism or in the context of a professional diagnosis autism spectrum disorder (ASD) or autism spectrum condition (ASC), is a neurodevelopmental condition (or conditions) characterized by difficulties in social interaction, verbal and nonverbal communication, and the presence of repetitive behavior and restricted interests. Other common signs include unusual responses to sensory stimuli. Autism is generally understood as a ''spectrum disorder'', which means that it can manifest differently in each person: any given autistic individual is likely to show some, but not all, of the characteristics associated with it, and the person may exhibit them to varying degrees. Some autistic people remain nonspeaking over the course of their lifespan, while others have relatively unimpaired spoken language. There is large variation in the level of support people require, and the same person may present differently at varying times. Historicall ...
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American Psychologist
''American Psychologist'' is a peer-reviewed academic journal published by the American Psychological Association. The journal publishes articles of broad interest to psychologists, including empirical reports and scholarly reviews covering science, practice, education, and policy, and occasionally publishes special issues on relevant topics in the field of psychology. The editor-in-chief is Harris Cooper ( Duke University). The journal has implemented the Transparency and Openness Promotion (TOP) Guidelines that provide structure to research planning and reporting and aim to make research more transparent, accessible, and reproducible. Abstracting and indexing The journal is abstracted and indexed in: According to the ''Journal Citation Reports'', the journal has a 2021 impact factor of 16.358. See also * ''Developmental Psychology'' *'' Journal of Abnormal Psychology'' *''Journal of Experimental Psychology The ''Journal of Experimental Psychology'' was a bimonthly peer-revie ...
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The Turkish Journal Of Pediatrics
''The Turkish Journal of Pediatrics'' is a quarterly peer-reviewed medical journal covering pediatrics. It was established in 1958 by İhsan Doğromaci. The editor-in-chief is Turgay Coşkun. It is published by the Turkish National Pediatric Society, of which it is the official journal. Abstracting and indexing The journal is abstracted and indexed in: According to the ''Journal Citation Reports'', the journal has a 2013 impact factor The impact factor (IF) or journal impact factor (JIF) of an academic journal is a scientometric index calculated by Clarivate that reflects the yearly mean number of citations of articles published in the last two years in a given journal, as ... of 0.339, ranking it 112th out of 118 journals in the category "Pediatrics". References External links * Turkish National Pediatric Society Pediatrics journals English-language journals Publications established in 1958 Quarterly journals Academic journals published by learned and pro ...
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Developmental Disorder
Developmental disorders comprise a group of psychiatric conditions originating in childhood that involve serious impairment in different areas. There are several ways of using this term. The most narrow concept is used in the category "Specific Disorders of Psychological Development" in the ICD-10. These disorders comprise developmental language disorder, learning disorders, motor disorders, and autism spectrum disorders. In broader definitions ADHD is included, and the term used is neurodevelopmental disorders. Yet others include antisocial behavior and schizophrenia that begins in childhood and continues through life. However, these two latter conditions are not as stable as the other developmental disorders, and there is not the same evidence of a shared genetic liability. Developmental disorders are present from early life. Most improve as the child grows older, but some entail impairments that continue throughout life. Emergence Learning disabilities are diagnosed when the ...
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Alagille Syndrome
Alagille syndrome is a genetic disorder that affects primarily the liver and the heart. Problems associated with the disorder generally become evident in infancy or early childhood. The disorder is inherited in an autosomal dominant pattern, and the estimated prevalence of Alagille syndrome is 1 in every 30,000 to 1 in every 40,000 live births. It is named after the French pediatrician Daniel Alagille, who first described the condition in 1969. Signs and symptoms The severity of the disorder can vary within the same family, with symptoms ranging from so mild as to go unnoticed, to severe heart and/or liver disease that requires transplantation. It is uncommon, but Alagille syndrome can be a life-threatening disease with a mortality rate of 10%. The majority of deaths from ALGS are typically due to heart complications or chronic liver failure. Liver Signs and symptoms arising from liver damage in Alagille syndrome may include a yellowish tinge in the skin and the whites of t ...
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Cholestasis
Cholestasis is a condition where bile cannot flow from the liver to the duodenum. The two basic distinctions are an obstructive type of cholestasis where there is a mechanical blockage in the duct system that can occur from a gallstone or malignancy, and metabolic types of cholestasis which are disturbances in bile formation that can occur because of genetic defects or acquired as a side effect of many medications. Classification is further divided into acute or chronic and extrahepatic or intrahepatic. Signs and symptoms The signs and symptoms of cholestasis vary according to the cause. In case of sudden onset, the disease is likely to be acute, while the gradual appearance of symptoms suggests chronic pathology. In many cases, patients may experience pain in the abdominal area. Localization of pain to the upper right quadrant can be indicative of cholecystitis or choledocholithiasis, which can progress to cholestasis. Pruritus or itching is often present in many patients w ...
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Williams Syndrome
Williams syndrome (WS) is a genetic disorder that affects many parts of the body. Facial features frequently include a broad forehead, underdeveloped chin, short nose, and full cheeks. Mild to moderate intellectual disability is observed in people with WS, with particular challenges with visual spatial tasks such as drawing. Verbal skills are relatively unaffected. Many people with WS have an outgoing personality, an openness to engaging with other people, and a happy disposition. Medical issues with teeth, heart problems (especially supravalvular aortic stenosis), and periods of high blood calcium are common. Williams syndrome is caused by a genetic abnormality, specifically a deletion of about 27 genes from the long arm of one of the two chromosome 7s. Typically, this occurs as a random event during the formation of the egg or sperm from which a person develops. In a small number of cases, it is inherited from an affected parent in an autosomal dominant manner. The differen ...
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Proteus Syndrome
Proteus syndrome is a rare disorder with a genetic background that can cause tissue overgrowth involving all three embryonic lineages. Patients with Proteus syndrome tend to have an increased risk of embryonic tumor development.Freedberg, et al. (2003). ''Fitzpatrick's Dermatology in General Medicine''. (6th ed.). McGraw-Hill. . The clinical and radiographic symptoms of Proteus syndrome are highly variable, as are its orthopedic manifestations. Only a few more than 200 cases have been confirmed worldwide, with estimates that about 120 people are currently alive with the condition.Woman's 11-stone legs may be lost
at BBC
As attenuated forms of the disease may exist, there could be many people with Proteus syndrome who remain undi ...
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Asphyxiating Thoracic Dysplasia
Asphyxiating thoracic dysplasia (ATD), also known as Jeune syndrome, is a rare inherited bone growth disorder (autosomal recessive skeletal dysplasia) that primarily affects the thoracic region. It was first described in 1955 by the French pediatrician Mathis Jeune. Common signs and symptoms can include a narrow chest, short ribs, shortened bones in the arms and legs, short stature, and extra fingers and toes (polydactyly). The restricted growth and expansion of the lungs caused by this disorder results in life-threatening breathing difficulties; occurring in 1 in every 100,000-130,000 live births in the United States. People who are affected with this disorder live short lives either only into infancy or early childhood. If they live beyond childhood, breathing problems can improve with age, but there is a possibility of developing severe kidney or heart problems. Several mutations in different genes such as  '' IFT80'', ''DYNC2H1'', '' WDR19'', '' IFT140'' and '' TTC21B'' h ...
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