The conditions are a diverse group of disorders which may also affect other parts of the body. When a person has at least two types of abnormal ectodermal features-for example, malformed teeth and extremely sparse hair-the individual is identified as being affected by ectodermal dysplasia. The ectodermal dysplasias are inherited disorders that involve defects in the hair, nails, sweat glands and teeth. There are many types of Ectodermal Dysplasias, some of which may be associated with speech delay. Behavioral and communication issues and developmental delays often exist. Limb differences, including missing arms, forearms or fingers, are seen in about 25 percent of individuals with CdLS. Common medical issues include gastro- esophageal reflux disease, heart defects, seizures, feeding difficulties, vision problems, and hearing loss. Other features may include excessive body hair and small hands and feet. Other characteristics include low birth weight (often under five pounds), slow growth, small stature, and small head size. Typical facial features include thin eyebrows that meet in the middle, long eyelashes, a short upturned nose, and thin downturned lips. Children and adults with CDG type 1a have varying degrees of disabilities including cognitive impairment, speech difficulties, poor balance and motor skills, some walk with support, many are in wheelchairs.”-CDG Family Network. Many children with CDG have serious life threatening medical problems during their infancy. The current identified types of CDG are Type 1a, 1b, 1c, 1d, 1e and IIa. “abnormal synthesis of sugar groups that are parts of glycoproteins (“sugarproteins”). In infants and children with the disorder, characteristic craniofacial malformations may include an unusually small head (microcephaly) abnormal shortness of the groove in the middle of the upper lip (philtrum) a small jaw (micrognathia) an unusually narrow, highly-arched roof of the mouth (palate) prominent front teeth (incisors) a high nasal bridge downslanting eyelid folds (palpebral fissures) and/or malformed, protruding ears.ĬDGS – Congenital Disorders of Glycosylation Malformations of the head and facial (craniofacial) area, eye (ocular) abnormalities, diminished muscle tone (hypotonia), obesity, abnormally narrow hands and feet with long fingers and toes, and/or mental retardation. Characteristics associated with “dup7” include: significant expressive speech and language delays, ranging from mildly affected to children with a diagnosis of apraxia of speech, receptive language often stronger than expressive, behavioral concerns such as social phobias and separation anxiety (possibly secondary to limited speech), possible oppositional defiance disorder sometimes misdiagnosed as on autism spectrum.ħq31 (FOXP2) – the FOXP2 gene is the first one that was associated with the development of speech and was first found in a multigenerational family in which 1/2 of its members had apraxia of speech and other associated conditionsĭevelopmental delay, functionally severe speech impairment, none or minimal use of words receptive and non-verbal communication skills higher than verbal ones Movement or balance disorder, usually ataxia of gait and/or tremulous movement of limbs Behavioral uniqueness: any combination of frequent laughter/smiling apparent happy demeanor easily excitable personality, often with hand flapping movements hypermotoric behavior short attention span. Individuals who have 7q11.23 duplication syndrome have 3 copies of the genes in this region. al., 2013)ħq11.23 duplication syndrome is a developmental disorder resulting from an extra copy of ~25 genes on the long arm of chromosome 7. A total of 8 (80%) of the 10 participants had clinically reportable variants in one or two of the six genes, with variants in ATP13A4, KIAA0319 and CNTNAP2 being the most prevalent.” (Worthy et.
“Among potentially deleterious variants, clinically reportable findings of interest occurred on a total of five chromosomes (Chr3, Chr6, Chr7, Chr9 and Chr17), which included six genes either strongly associated with CAS (FOXP1 and CNTNAP2) or associated with disorders with phenotypes overlapping CAS (ATP13A4, CNTNAP1, KIAA0319 and SETX). In a 2013 study, researchers determined that Whole Exome Sequencing (WES) was helpful in identifying genetic differences in a group of children with childhood apraxia of speech. Some of these conditions specifically are associated with childhood apraxia of speech. This page includes links to information about genetic, metabolic or mitochondrial disorders which are known to affect the intelligibility of speech and/or speech development.
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