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Skraban–Deardorff Syndrome
Skraban–Deardorff syndrome is a rare disease, rare genetic disorder caused by pathogenic variants of the WDR26 gene. It is characterized by global developmental delay, intellectual disability, agreeableness, friendly demeanor, gait abnormality, unusual walking, seizures, feeding difficulties and distinct dysmorphism, facial features. The condition occurs due to haploinsufficiency, insufficient levels of functional WDR26 protein, which disrupt various cellular mechanisms involved in the development of the nervous system. While cases reported in medical literature have occurred spontaneously (''de novo mutation, de novo''), it can be inherited in an autosomal dominant manner. Skraban–Deardorff syndrome shares significant clinical overlap with chromosome 1q41q42 chromosomal deletion syndrome, microdeletion syndrome. Diagnosis is established through genetic testing in individuals with characteristic features. Management is symptomatic care, supportive and individualized, includin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Philtrum
The philtrum (, from Ancient Greek , lit. 'love charm') or medial cleft is a vertical indentation in the middle area of the upper lip, common to therian mammals, extending in humans from the nasal septum to the tubercle of the upper lip. Together with a glandular rhinarium and slit-like nostrils, it is believed to constitute the primitive condition for at least therian mammals. Monotremes lack a philtrum, though this could be due to the specialised, beak-like jaws in living species. Function In most mammals, the philtrum is a narrow groove that may carry dissolved odorants from the rhinarium or nose pad to the vomeronasal organ via ducts inside the mouth. For humans and most primates, the philtrum survives only as a vestigial medial depression between the nose and upper lip. The human philtrum, bordered by a pair of ridges known as the ''philtral columns'', is also known as the ''infranasal depression'', but has no apparent function. That may be because most higher pri ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having Heterozygosity, two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or Heredity, inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes (autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Activities Of Daily Living
Activities of daily living (ADLs) is a term used in healthcare to refer to an individual's daily self-care activities. Health professionals often use a person's ability or inability to perform ADLs as a measure of their Performance status, functional status. The concept of ADLs was originally proposed in the 1950s by Sidney Katz and his team at the Benjamin Rose Hospital in Cleveland, Ohio. Since then, numerous researchers have expanded on the concept of ADLs. For instance, many indexes that assess ADLs now incorporate measures of mobility. In 1969, Lawton and Brody developed the concept of Instrumental Activities of Daily Living (IADLs) to capture the range of activities that support independent living. These are often utilized in caring for individuals with disabilities, injuries, and the elderly."Activities of Daily Living Evaluation." ''Encyclopedia of Nursing & Allied Health''. ed. Kristine Krapp. Gale Group, Inc., 2002. eNotes.com. 200Enotes Nursing Encyclopedia Accessed on: ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fine Motor Skills
Fine may refer to: Characters * Fran Fine, the title character of ''The Nanny'' * Sylvia Fine (''The Nanny''), Fran's mother on ''The Nanny'' * Officer Fine, a character in ''Tales from the Crypt'', played by Vincent Spano Legal terms * Fine (penalty), money to be paid as punishment for an offence * Fine on alienation, a sum of money paid to a feudal lord when a tenant had occasion to make over his land to another * Fine of lands, an obsolete type of land conveyance to a new owner * Fine, a dated term for a premium on a lease of land Music * Fine (band), a late 1990s American band * ''Fine'' (album), a 1994 album by Snailhouse * "Fine" (Taeyeon song), 2017 * "Fine" (Whitney Houston song), 2000 * " F.I.N.E.*", a 1993 song by Aerosmith * "Fine", a song by James from the 2001 album '' Pleased to Meet You'' * "Fine", a song by Kacey Musgraves from the 2015 album '' Pageant Material'' * "Fine", a song by Kylie Minogue from the 2014 album '' Kiss Me Once'' * "Fine", a song by ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Early Childhood Development
Early childhood development is the period of rapid physical, psychological and social growth and change that begins before birth and extends into early childhood. While early childhood is not well defined, one source asserts that the early years begin in utero and last until 3 years of age. Milestones Developmental milestones represent useful markers that medical professionals and families can use to determine the developmental stage of a growing child. The following table contains examples of typical milestones achieved at each time point across al four domains: Pediatric growth Pediatric growth is measured in height or length, head circumference (used from 0–2 years of age), weight, and BMI (used starting at 2 years of age). It is determined by multiple factors including genetic, environmental, hormonal, nutritional and psychosocial factors. Some factors, such as maternal nutrition and alcohol, tobacco and drug exposure affect size at birth while other factors, such as g ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Gross Motor Skills
Gross motor skills are the abilities usually acquired during childhood as part of a child's motor learning. By the time they reach two years of age, almost all children are able to stand up, walk and run, walk up stairs, etc. These skills are built upon, improved and better controlled throughout early childhood, and continue in refinement throughout most of the individual's years of development into adulthood. These gross movements come from large muscle groups and whole body movement. These skills develop in a head-to-toe order. The children will typically learn head control, trunk stability, and then standing up and walking. It is shown that children exposed to outdoor play time activities will develop better gross Motor skill, motor skills. Types of motor skills Motor skills are movements and actions of the muscles. Typically, they are categorized into two groups: gross motor skills and fine motor skills. Gross motor skills are involved in movement and coordination of the arms, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nonverbal
Nonverbal communication is the transmission of messages or signals through a nonverbal platform such as eye contact ( oculesics), body language ( kinesics), social distance ( proxemics), touch ( haptics), voice ( prosody and paralanguage), physical environments/appearance, and use of objects. When communicating, nonverbal channels are utilized as means to convey different messages or signals, whereas others interpret these messages. The study of nonverbal communication started in 1872 with the publication of '' The Expression of the Emotions in Man and Animals'' by Charles Darwin. Darwin began to study nonverbal communication as he noticed the interactions between animals such as lions, tigers, dogs etc. and realized they also communicated by gestures and expressions. For the first time, nonverbal communication was studied and its relevance noted. Today, scholars argue that nonverbal communication can convey more meaning than verbal communication. In the same way that speech ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Speech Delay
Speech delay, also known as alalia, refers to a delay in the development or use of the mechanisms that produce speech. Speech – as distinct from language – is the actual process of making sounds, using such organs and structures as the lungs, vocal cords, mouth, tongue, teeth, etc. Language delay refers to a delay in the development or use of the knowledge of language. Because language and speech are two independent stages, they may be individually delayed. For example, a child may be delayed in speech (i.e., unable to produce intelligible speech sounds), but not delayed in language. In this case, the child would be attempting to produce an age appropriate amount of language, but that language would be difficult or impossible to understand. Conversely, since a child with a language delay typically has not yet had the opportunity to produce speech sounds, they are likely to have a delay in speech as well. Signs and symptoms The warning signs of early speech delay are ca ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Language Development
Language development in humans is a process which starts early in life. Infants start without knowing a language, yet by 10 months, babies can distinguish speech sounds and engage in babbling. Some research has shown that the earliest learning begins in utero when the fetus starts to recognize the sounds and speech patterns of its mother's voice and differentiate them from other sounds after birth. Typically, children develop receptive language abilities before their verbal or expressive language develops. Receptive language is the internal processing and understanding of language. As receptive language continues to increase, expressive language begins to slowly develop. Usually, productive/expressive language is considered to begin with a stage of pre-verbal communication in which infants use gestures and vocalizations to make their intents known to others. According to a general principle of development, new forms then take over old functions, so that children learn words to e ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anticonvulsant
Anticonvulsants (also known as antiepileptic drugs, antiseizure drugs, or anti-seizure medications (ASM)) are a diverse group of pharmacological agents used in the treatment of epileptic seizures. Anticonvulsants are also used in the treatment of bipolar disorder and borderline personality disorder, since many seem to act as mood stabilizers, and for the treatment of neuropathic pain. Anticonvulsants suppress the uncontrolled and excessive firing of neurons during seizures and in doing so can also prevent the spread of the seizure within the brain. Conventional antiepileptic drugs have diverse mechanisms of action but many block sodium channels or enhance γ-aminobutyric acid ( GABA) function. Several antiepileptic drugs have multiple or uncertain mechanisms of action. Next to voltage-gated sodium channels and components of the GABA system, their targets include GABAA receptors, the GABA transporter type 1, and GABA transaminase. Additional targets include voltage-gate ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Individualized Education Program
An Individualized Education Program (IEP) is a legal document under United States law that is developed for each State school, public school child in the United States, U.S. who needs special education. IEPs must be reviewed every year to keep track of the child's educational progress. Similar legal documents exist in other countries. An IEP highlights the special education experience for all eligible students with a disability. It also outlines specific strategies and supports to help students with disabilities succeed in both academic and social aspects of school life. An eligible student is any child in the U.S. between the ages of 3–21 attending a public school and has been evaluated as having a need in the form of a learning disability, specific learning disability, autism, Emotional and behavioral disorders, emotional disturbance, other health impairments, intellectual disability, orthopedic impairment, multiple disabilities, Hearing loss, hearing impairments, deafness, v ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Early Childhood Intervention
Early childhood intervention (ECI) is a support and educational system for very young children (aged birth to six years) who have been victims of, or who are at high risk for child abuse and/or neglect as well as children who have developmental delays or disabilities. Some states and regions have chosen to focus these services on children with developmental disabilities or delays, but Early Childhood Intervention is not limited to children with these disabilities. The mission of early childhood intervention is to assure that families who have at-risk children in this age range receive resources and supports that assist them in maximizing their child's physical, cognitive, and social/emotional development while respecting the diversity of families and communities. Definition Early intervention is a system of coordinated services that promotes the child's age-appropriate growth and development and supports families during the critical early years. In the United States, some early ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
