Poor or Absent Speech: Causes & Reasons

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Possible Causes for Poor or Absent Speech

Developmental and 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 [web.expasy.org]

Definition A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor [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 10

[…] 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

Pontocerebellar Hypoplasia Type 2A

Bainbridge-Ropers Syndrome

[…] or absent speech, hypotonia, feeding difficulties, poor growth, and dysmorphic facial features that include prominent forehead, high-arched, thin eyebrows, hypertelorism, [globalgenes.org]

This report expands the phenotype of older patients with BRPS; common emerging features include severe intellectual disability (12/12), poor/ absent speech (12/12), autistic [discovery.dundee.ac.uk]

[…] growth, poor or absent speech and dimorphic facial features (4,5,6). [spandidos-publications.com]

Chromosome 17p13.1 Deletion Syndrome

[…] to absent speech, dysmorphic features (long midface, retrognathia with overbite, protruding ears), microcephaly, failure to thrive, wide-based gait and a body posture with [malacards.org]

ABSTRACT The 17p13.1 microdeletion syndrome is a recently described genomic disorder with a core clinical phenotype of intellectual disability, poor to absent speech, dysmorphic [zfin.org]

319171 Definition Distal 17p13.1 microdeletion syndrome is a rare chromosomal anomaly syndrome characterized by mild global developmental delay /intellectual disability with poor [rarediseases.info.nih.gov]

Porencephaly

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]

Tetrasomy 15q

[…] delay ; mild to severe intellectual disability ; delayed or absent speech; behavioral abnormalities; and seizures .[1][2] Most cases of isodicentric chromosome 15 syndrome [rarediseases.info.nih.gov]

Although the severity of the condition and the associated features vary from person to person, common signs and symptoms include poor muscle tone in newborns; developmental [rarediseases.info.nih.gov]

Autosomal Recessive Spastic Paraplegia Type 50

SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. [genecards.org]

[…] 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]

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]

Diomedi-Bernardi-Placidi Syndrome

Autosomal Recessive Spastic Paraplegia Type 52

SPG52 is characterized by neonatal hypotonia that progresses to hypertonia and spasticity, and severe mental retardation with poor or absent speech development. [uniprot.org]

[…] or absent speech, early-onset refractory seizures, and hypotonia. [mendelian.co]

[…] or absent speech development (summary by Abou Jamra et al., 2011). [ncbi.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]

A characteristic facial appearance, hypotonia, psychomotor retardation and poor or absent speech are suggestive of chromosome 1p36 deletion syndrome, and the diagnosis is [nature.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]

X-Linked Mental Retardation Type 98

speech and poor gross and fine motor skills. [findzebra.com]

MRX98 patients show delayed psychomotor development, absent or poor speech development, and postnatal growth retardation, often with microcephaly. [cloud-clone.com]

The patients had delayed psychomotor development, absent or poor speech development, and postnatal growth retardation, often with microcephaly. [findzebra.com]

Nail Bed Injury

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]

Pontocerebellar Hypoplasia Type 1B

[…] head control Absent speech Cognitive delay Seizures Respiratory system abnormality Skeletal system abnormality Growth symptoms Hyperreflexia Foot abnormality Respiratory [familydiagnosis.com]

[…] 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]

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]

X-Linked Syndromic Mental Retardation Type Turner

Affected individuals show global developmental delay from infancy, with variably impaired intellectual development and poor or absent speech, often with delayed walking. [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]

Pontocerebellar Hypoplasia Type 2E

[…] 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]

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]

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]

Mucolipidosis Type 3

Affected individuals have multiple variable symptoms, including poor or absent speech, inability to walk, and abnormal movements. [mendelian.co]

Postaxial Oligodactyly, Tetramelic

[…] or absent speech development (summary by Abou Jamra et al., 2011 ). [mendelian.co]

[…] is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor [mendelian.co]

Porphyria

/absent speech, dystonia and optic and pituitary defects. [exeterlaboratory.com]

Congenital Cerebral Cyst

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]

Spondyloepimetaphyseal Dysplasia Type Irapa

[…] or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. [mendelian.co]

[…] progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor [mendelian.co]

Achalasia - Microcephaly Syndrome

[…] or absent speech development (summary by Verkerk et al., 2009 ). [mendelian.co]

He had dilated pupils with an absent direct light response and poor response to accommodation. Fundoscopy revealed bilateral optic atrophy. [jnnp.bmj.com]

[…] is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor [mendelian.co]