Possible Causes for poor or absent speech Chromosome 19q13.11 Deletion Syndrome microcephaly, delayed development, intellectual disability with poor or absent speech, and feeding difficulties. [diseaseinfosearch.org] Get Update Overview Distal chromosome 19q13.11 deletion syndrome is an autosomal dominant neurodevelopmental disorder characterized by poor overall growth, slender habitus [diseaseinfosearch.org] Chalazion Those severely affected individuals at one end of the spectrum may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening [netdoctor.co.uk] Otitis Media Symptoms of OME may be subtle or absent and manifest only through poor balance, behavioral problems, school performance issues, or limited progress with ongoing speech therapy [doi.org] Chronic Fatigue Syndrome […] or forgetfulness 46.5 (30.4) 60.5 (24.4) *** Feeling disoriented 23.5 (26.0) 35.8 (26.0) *** Slowed speech 22.7 (26.4) 32.8 (26.8) -- Poor coordination 44.3 (29.9) 45.9 [biomedicine.imedpub.com] * Unable to focus vision and/or attention 35.7 (26.8) 49.7 (24.2) *** Loss of depth perception 19.2 (28.1) 23.6 (29.3) -- Slowness of thought 41.2 (30.2) 57.6 (26.1) *** Absent-mindedness [biomedicine.imedpub.com] Diomedi-Bernardi-Placidi Syndrome […] or absent speech development Other known features of SPG47 can include the following (not every child will have these features): short stature late walking and later loss [childrenshospital.org] […] increasing spasticity and paralysis in the lower limbs starting in early childhood intellectual disability microcephaly (a smaller than normal head) delayed motor development poor [childrenshospital.org] Portal Cirrhosis Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus,spastics contractures and mental retardation (2). [snpcar.ro] Scarlet Fever Affected individuals have a wide range of cognitive function, from normal intelligence to major learning disabilities with absent speech and poor communication. [ghr.nlm.nih.gov] Monosomy 1p36 Syndrome absent speech and is confirmed by detection of a deletion of the most distal band of the short arm of chromosome 1 (1p36). [ncbi.nlm.nih.gov] All patients demonstrated developmental delay with poor/absent speech; 95% had hypotonia. Twenty-six percent were able to walk alone, and 47% had a behavior disorder. [pediatrics.aappublications.org] Frequency of Major Clinical Findings in 1p36 Deletion Syndrome Findings Frequency Distinctive facial features (see Clinical Diagnosis ) Intellectual disability Poor/absent [ncbi.nlm.nih.gov] Central Nervous System Cyst Those severely affected individuals at one end of the spectrum may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening [netdoctor.co.uk] Porphyria Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus (accumulation of fluid in the brain), spastic contractures (shrinkage or shortening [ninds.nih.gov] Individuals with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of muscles), and mental retardation [medicinenet.com] /absent speech, dystonia and optic and pituitary defects. [exeterlaboratory.com] Autosomal Recessive Spinocerebellar Ataxia 18 SCAR20 is characterized by cerebellar atrophy, ataxia, coarsened facial features, severely delayed psychomotor development with poor or absent speech, and intellectual disability [genecards.org] Early Infantile Epileptic Encephalopathy Type 26 EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. [uniprot.org] A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor [ghr.nlm.nih.gov] EIEE26 patients CC manifest multiple types of seizures, delayed psychomotor CC development, poor or absent speech, hypotonia, hypsarrhythmia. [myhits.isb-sib.ch] Acquired Porencephaly Individuals with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of a muscle), and mental retardation [bridges4kids.org] Spastic Paraplegia […] or absent speech development Other known features of SPG47 can include the following (not every child will have these features): short stature late walking and later loss [childrenshospital.org] […] increasing spasticity and paralysis in the lower limbs starting in early childhood intellectual disability microcephaly (a smaller than normal head) delayed motor development poor [childrenshospital.org] Sudden Hearing Loss Poor speech perception more than the audiometric loss. Late or absent vestibular symptoms. Involvement of other cranial nerves. Brainstem, cerebellar involvement [slideshare.net] […] and features of raised ICT. 38. High frequency SNHL. Poor speech discrimination. Roll over phenomenon. SISI : 0 -20 % suggestive of nerve deafness. TDT : retrocochlear [slideshare.net] […] lesion. Absent or diminished responses in caloric tests. MRI with contrast is gold standard for diagnosis. 39. Also called endolymphatic hydrops. Attacks of SNHL [slideshare.net] Familial Porencephaly Individuals with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of a muscle), and mental retardation [bridges4kids.org] Additional findings that have been reported with porencephaly include poor speech development or absent speech, paralysis of one side of the body (hemiplegia), abnormal tightening [rarediseases.org] […] or poor speech development Hypotonia or reduced muscle strength Hemiplegia or paralysis of the appendages Degenerative or non-degenerative cysts or cavities Poor motor control [hxbenefit.com] Testicular Seminoma Affected individuals have a wide range of cognitive function, from normal intelligence to major learning disabilities with absent speech and poor communication. [ghr.nlm.nih.gov] West Syndrome speech Hypersensitivity to touch, for example dislike of hair brushing Lack of eye contact or poor eye contact Gastro‐esophageal reflux Constipation Small, cold feet Breathing [cdkl5.com] […] seizures with myoclonic clusters and/or tonic/clonic seizures, etc) A small head (microcephaly) Hand wringing movements or mouthing of the hands Developmental delays Limited or absent [cdkl5.com] Autosomal Recessive Primary Microcephaly Type 10 Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. [mendelian.co] Intellectual Disability Is often recognized early in life with poor motor development & absent or markedly delayed speech & communication skills. 8. [slideshare.net] Mucolipidosis Type 3 Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. [mendelian.co] Autosomal Recessive Spastic Paraplegia Type 32 […] or absent speech development (summary by Moreno-De-Luca et al., 2011). (613744) [malacards.org] […] is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor [malacards.org] Nail Bed Injury Children with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus (accumulation of fluid in the brain), spastic contractures (shrinkage or shortening [ninds.nih.gov] Individuals with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of muscles), and mental retardation [medicinenet.com] /absent speech, dystonia and optic and pituitary defects. [exeterlaboratory.com] Kyphoscoliosis Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. [ncbi.nlm.nih.gov] Sialadenitis Touch sensation poor on post. third of tongue. Tste sensation present on posterior part of tongue 10 th nerve Gag reflex absent on left side. [similima.com] Slurring speech – mild pharynx palsy of left side. No bubbling or pooling of saliva in mouth. No fluid regurgitation of fluid through nose. [similima.com] Lermoyez Syndrome […] discrimination score 90-1 00% Below 90% Very poor Rollover phenomenon Absent Absent Present Recruitment Absent Present Absent SISI score 0-15% Over 70% 0-20% Threshold tone [gradestack.com] […] differentiate a cochlear form a retrocochlear lesion Normal Cochlear lesion Retrocochlear lesion Pure tone audiogram Normal Sensorineural hearing loss Sensorineural hearing loss Speech [gradestack.com] Spinocerebellar Ataxia Type 13 Affected individuals show mild to profound mental retardation with poor or absent speech as well as gait and stance ataxia and hyperreflexia. [uniprot.org] Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 Megalencephaly- polymicrogyria -polydactyly-hydrocephalus (MPPH) syndrome is a rare disorder that primarily affects the development of the brain. Affected individuals are born with an unusually large brain and head size (megalencephaly). The head and brain continue to grow rapidly during the first 2 years of life.[…] [ghr.nlm.nih.gov] Pontocerebellar Hypoplasia Type 2A […] or absent speech, seizures, and spasticity PCH3 608027 PCLO 7q11–q21 Seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay; described [en.wikipedia.org] […] progressive microcephaly, spasticity, and early-onset epilepsy[7] PCH2F 617026 TSEN15 1q25.3 Variable neurologic signs and symptoms, including cognitive and motor delay, poor [en.wikipedia.org] Pontocerebellar Hypoplasia Type 2D […] or absent speech, seizures, and spasticity PCH3 608027 PCLO 7q11–q21 Seizures, short stature, optic atrophy, progressive microcephaly, severe developmental delay; described [en.wikipedia.org] […] progressive microcephaly, spasticity, and early-onset epilepsy[7] PCH2F 617026 TSEN15 1q25.3 Variable neurologic signs and symptoms, including cognitive and motor delay, poor [en.wikipedia.org]
