Turner syndrome (TS), also known as 45,X, or 45,X0, is a genetic disorder in which a female is partially or completely missing an X chromosome. Signs and symptoms vary among those affected. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Typically, those affected do not develop menstrual periods, or breasts without hormone treatment and are unable to have children without reproductive technology. Heart defects, diabetes, and low thyroid hormone occur in the disorder more frequently than average. Most people with Turner syndrome have normal intelligence; however, many have problems with spatial visualization that may be needed in order to learn mathematics. Vision and hearing problems also occur more often than average.
Delayed puberty is when a person lacks or has incomplete development of specific sexual characteristics past the usual age of onset of puberty. The person may have no physical or hormonal signs that puberty has begun. In the United States, girls are considered to have delayed puberty if they lack breast development by age 13 or have not started menstruating by age 15. Boys are considered to have delayed puberty if they lack enlargement of the testicles by age 14. Delayed puberty affects about 2% of adolescents.
Aicardi syndrome is a rare genetic malformation syndrome characterized by the partial or complete absence of a key structure in the brain called the corpus callosum, the presence of retinal lacunes, and epileptic seizures in the form of infantile spasms. Other malformations of the brain and skeleton may also occur. The syndrome includes intellectual disability that is usually severe or moderate. So far, the syndrome has only been diagnosed in girls and in boys with two X chromosomes.
The following outline is provided as an overview of and topical guide to childhood:
Hypotonia is a state of low muscle tone, often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a child's development and later life depend primarily on the severity of the muscle weakness and the nature of the cause. Some disorders have a specific treatment but the principal treatment for most hypotonia of idiopathic or neurologic cause is physical therapy and/or occupational therapy for remediation.
In Freudian psychology, psychosexual development is a central element of the psychoanalytic sexual drive theory. Freud believed that personality developed through a series of childhood stages in which pleasure seeking energies from the child became focused on certain erogenous areas. An erogenous zone is characterized as an area of the body that is particularly sensitive to stimulation. The five psychosexual stages are the oral, the anal, the phallic, the latent, and the genital. The erogenous zone associated with each stage serves as a source of pleasure. Being unsatisfied at any particular stage can result in fixation. On the other hand, being satisfied can result in a healthy personality. Sigmund Freud proposed that if the child experienced frustration at any of the psychosexual developmental stages, they would experience anxiety that would persist into adulthood as a neurosis, a functional mental disorder.
Disorganized schizophrenia, or hebephrenia, was a subtype of schizophrenia prior to 2013. Subtypes of schizophrenia were no longer recognized as separate conditions in the DSM 5, published in 2013. The disorder is no longer listed in the 11th revision of the International Classification of Diseases (ICD-11).
Landau–Kleffner syndrome (LKS)—also called infantile acquired aphasia, acquired epileptic aphasia or aphasia with convulsive disorder—is a rare childhood neurological syndrome.
Paraphilic infantilism, also known as autonepiophilia, psychosexual infantilism and adult baby syndrome, is a sexual fetish that involves role-playing a regression to an infant-like state. Behaviors may include drinking from a bottle or wearing diapers. Individuals may engage in gentle and nurturing experiences or be attracted to masochistic, coercive, punishing or humiliating experiences. Diaper fetishism involves "diaper lovers" wearing diapers for sexual or erotic reasons but may not involve infant-like behavior. Individuals who experience both of these things are referred to as adult baby/diaper lovers. When wearing diapers, infantilists may urinate and/or defecate in them.
Epileptic spasms is an uncommon-to-rare epileptic disorder in infants, children and adults. One of the other names of the disorder, West syndrome, is in memory of the English physician, William James West (1793–1848), who first described it in an article published in The Lancet in 1841. The original case actually described his own son, James Edwin West (1840–1860). Other names for it are "generalized flexion epilepsy", "infantile epileptic encephalopathy", "infantile myoclonic encephalopathy", "jackknife convulsions", "massive myoclonia" and "Salaam spasms". The term "infantile spasms" can be used to describe the specific seizure manifestation in the syndrome, but is also used as a synonym for the syndrome itself. West syndrome in modern usage is the triad of infantile spasms, a pathognomonic EEG pattern, and developmental regression – although the international definition requires only two out of these three elements.
Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system in the male or female. It is the atypical development of the gonads in an embryo, with reproductive tissue replaced with functionless, fibrous tissue, termed streak gonads. Streak gonads are a form of aplasia, resulting in hormonal failure that manifests as sexual infantism and infertility, with no initiation of puberty and secondary sex characteristics.
Édouard Brissaud was a French physician and pathologist. He was taught by Jean Martin Charcot at Pitié-Salpêtrière Hospital. He had interests in a number of medical disciplines including motion disturbances, anatomy, neurology and psychiatry. He died of a brain tumour, aged 57.
Disorders of sex development (DSDs), also known as differences in sex development, diverse sex development and variations in sex characteristics (VSC), are congenital conditions affecting the reproductive system, in which development of chromosomal, gonadal, or anatomical sex is atypical.
A speech sound disorder (SSD) is a speech disorder in which some sounds (phonemes) are not produced or used correctly. The term "protracted phonological development" is sometimes preferred when describing children's speech, to emphasize the continuing development while acknowledging the delay.
Infantilism may refer to:
Angelman syndrome or Angelman's syndrome (AS) is a genetic disorder that mainly affects the nervous system. Symptoms include a small head and a specific facial appearance, severe intellectual disability, developmental disability, limited to no functional speech, balance and movement problems, seizures, and sleep problems. Children usually have a happy personality and have a particular interest in water. The symptoms generally become noticeable by one year of age.
Infantile speech, pedolalia, baby talk, infantile perseveration, or infantilism is a speech disorder, persistence of early speech development stage beyond the age when it is normally expected. It is characterized by the omission of some sounds and the substitution of standard speech sounds observed in children in early developmental stages.
Michele Zappella is an Italian psychiatrist and scholar of Child Neuropsychiatry. He is a native of Viareggio, Italy.
Leydig cell hypoplasia (LCH), also known as Leydig cell agenesis, is a rare autosomal recessive genetic and endocrine syndrome affecting an estimated 1 in 1,000,000 genetic males. It is characterized by an inability of the body to respond to luteinizing hormone (LH), a gonadotropin which is normally responsible for signaling Leydig cells of the testicles to produce testosterone and other androgen sex hormones. The condition manifests itself as pseudohermaphroditism, hypergonadotropic hypogonadism, reduced or absent puberty, and infertility.
Sexual anomalies, also known as sexual abnormalities, are a set of clinical conditions due to chromosomal, gonadal and/or genitalia variation. Individuals with congenital (inborn) discrepancy between sex chromosome, gonadal, and their internal and external genitalia are categorised as individuals with a disorder of sex development (DSD). Afterwards, if the family or individual wishes, they can partake in different management and treatment options for their conditions.
