Developmental-delay: Causes & Reasons

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Possible Causes for developmental delay

Pineal Gland Cyst

Chemotherapy has been used to delay radiation therapy in very young children, for whom the long-term neurocognitive and developmental side effects of craniospinal irradiation [wikidoc.org]

Duchenne Muscular Dystrophy

Besides, she presented with an unusually early beginning of muscular dystrophy symptoms with infantile-onset motor developmental delay, intellectual disability and early calf [ncbi.nlm.nih.gov]

The proband had bilateral DRS with otherwise normal ocular motility; he also had developmental delay, mild mental retardation, and seizures. [ncbi.nlm.nih.gov]

Tools and Resources for Patients and Families Does My Child Have Physical Developmental Delays? [aap.org]

Juvenile Myoclonic Epilepsy

A 21-year old man with marked developmental delay was referred for the diagnosis of myoclonic jerks (MJ), which were sometimes responsible for sudden falls without loss of [ncbi.nlm.nih.gov]

delay was referred for the diagnosis of myoclonic jerks (MJ), which were sometimes responsible for sudden falls without loss of consciousness, that had begun 2 years before [jle.com]

Key words: juvenile myoclonic epilepsy, severe mental retardation, brain abnormalities, neuroradiology Page(s) : 27-32 Published in: 2000 A 21-year old man with marked developmental [jle.com]

Early Infantile Epileptic Encephalopathy Type 6

He presented with intractable and recurrent convulsions, global developmental delay and microcephaly. [ncbi.nlm.nih.gov]

A clear developmental delay begun before the age of 2 years in both children and the cognitive profile continued to worse, with some differences between different domains, [ncbi.nlm.nih.gov]

delay. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis

He had mild dysmorphic features with prominent speech developmental delays and, to a lesser extent, motor developmental delays. [ncbi.nlm.nih.gov]

Affected subjects present developmental delay, attention deficit disorder, uncontrollable hyperactivity, and aggressive behavior, followed by progressive dementia and death [ncbi.nlm.nih.gov]

delay, and an elevated quantitative urine glycosaminoglycan (GAG) level. [ncbi.nlm.nih.gov]

Growth Hormone Deficiency

The Xia-Gibbs syndrome patients exhibited short stature, hypotonia, global developmental delay, speech delay, simian crease, and mild dysmorphic features. [ncbi.nlm.nih.gov]

delay. [ncbi.nlm.nih.gov]

The core clinical findings of JSRD are hypotonia, developmental delay, abnormal eye movements and breathing abnormalities. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 2

delay, and intellectual disability. [symptoma.com]

A prominent feature is neurological damage that presents as developmental delay and hyperactivity but progresses to mental retardation and dementia. [uniprot.org]

He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay. [ggc.org]

Mucolipidosis

Both surviving children had severe global developmental delay at 2 months of age. [ncbi.nlm.nih.gov]

BACKGROUND: Mucolipidosis type IV (ML-IV) is a rare autosomal recessive lysosomal storage disorder which presents with nonspecific developmental delay. [ncbi.nlm.nih.gov]

delay and other structural abnormalities. [ncbi.nlm.nih.gov]

Treacher-Collins Syndrome

CHARGE syndrome was discussed because of ear anomalies, choanal atresia, and developmental delay in our patients. [ncbi.nlm.nih.gov]

He showed developmental delay and had suffered recurrent seizures beginning at 21months of age. [ncbi.nlm.nih.gov]

Mandibulofacial dysostosis with microcephaly (MFDM) is a sporadic malformation syndrome with severe craniofacial abnormalities, microcephaly, developmental delay, and dysmorphic [ncbi.nlm.nih.gov]

Kabuki Syndrome

Kabuki syndrome is a rare genetic disorder characterized by congenital anomalies and developmental delay. [ncbi.nlm.nih.gov]

Kabuki syndrome is a rare dysmorphic disorder characterized by peculiar facial appearance, developmental delay, skeletal abnormalities, mental retardation, and dermatoglyphic [ncbi.nlm.nih.gov]

delay, and finally by the confirmation of MLL2 mutations. [ncbi.nlm.nih.gov]

Tuberous Sclerosis

The condition can manifest in many ways, but the effects that most strongly impact quality of life are seizures, developmental delay, intellectual disability, and autism. [uabmedicine.org]

A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, and lung and kidney disease. [dbpedia.org]

In the following months the patient developed clinically a typical neurological phenotype of LND and TSC with seizures, severe dystonia and developmental delay. [ncbi.nlm.nih.gov]

West Syndrome

I have read from others that maybe the phenobarb was holding him back - only time will tell - are there other parents out there that have experienced developmental delays [epilepsy.com]

The patient was admitted due to infantile epileptic spasms at eight months of age, motor developmental delay, and dysmorphic features. [ncbi.nlm.nih.gov]

We report a Slovene girl with hypotonia, lack of visual attention, early onset epileptic encephalopathy, and severe developmental delay. [ncbi.nlm.nih.gov]

Methylmalonic Acidemia

See a provider if your child has signs of failure-to-thrive or developmental delays. A low-protein diet can help reduce the number of acidemia attacks. [nlm.nih.gov]

Affected infants can have vomiting, dehydration, hypotonia, developmental delay and failure to thrive. [ncbi.nlm.nih.gov]

Mutations in the X-linked gene CDKL5 cause early-onset epileptic encephalopathy and severe developmental delay. [ncbi.nlm.nih.gov]

Maple Syrup Urine Disease

Dietary compliance is necessary to prevent developmental delay and neurological symptoms. [patient.info]

MSUD is a complex metabolic disorder that has been associated with central nervous system damage, developmental delays, and neurocognitive deficits. [ncbi.nlm.nih.gov]

Intermittent MSUD patients are asymptomatic at birth but may suffer episodes of acute decompensation or develop neurological symptoms and developmental delay during childhood [orpha.net]

Mucopolysaccharidosis Type 1

Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition. [symptoma.com]

Analyzes chromosomes in newborns and infants for changes that can explain certain birth defects or developmental delays. [integratedgenetics.com]

Developmental delay may plateau, but then the child’s developmental skills may regress. [medicalhomeportal.org]

Wolman Disease

delay. [jewishgeneticdiseases.org]

Soon after, they develop signs and symptoms of the disease, which may include: Vomiting Diarrhea Poor weight gain Low muscle tone Developmental delay Enlarged liver and spleen [disabled-world.com]

delay, low amounts of iron in the blood (anemia), and poor absorption of nutrients from food. [ldnz.org.nz]

Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome

Alternatively, patients show a chronic course with aversion for protein rich foods, developmental delay/intellectual disability, myoclonic seizures, ataxia and pyramidal dysfunction [ncbi.nlm.nih.gov]

Alternatively, patients show a chronic course with aversion for protein rich foods, developmental delay/intellectual disability, myoclonic seizures, ataxia and pyramidal… [semanticscholar.org]

Intellectual Disability

delay. [ncbi.nlm.nih.gov]

In this report we describe a 10 year-old female patient with interstitial deletion of 9q32-q34.1 associated with mental retardation, developmental delay, short stature, mild [ncbi.nlm.nih.gov]

Mental Retardation/Developmental Delay Services It was an obvious need that led to a courageous decision in the early 1950s, when St. [stjosephscenter.org]

Triple A Syndrome

In conclusion, triple A syndrome should be considered in patients presenting with early neurological dysfunction and developmental delay. [ncbi.nlm.nih.gov]

We report a 2-8/12 year-old male who presented with symptoms resembling cystic fibrosis (failure to thrive, developmental delay and recurrent diarrhea) and had elevated sweat [ncbi.nlm.nih.gov]

Mutations in GDP-mannose pyrophosphorylase A (GMPPA) cause a triple A-like syndrome characterized by alacrima, delayed developmental milestones, and speech delay (each 100% [abstracts.eurospe.org]

Kohlschütter-Tönz Syndrome

Compared to other reported cases of the syndrome, our patient had less severe developmental delay. [ncbi.nlm.nih.gov]

Kohlschutter-Tonz syndrome (KTS) is a rare autosomal-recessive disorder of childhood onset, and it is characterized by global developmental delay, spasticity, epilepsy, and [ncbi.nlm.nih.gov]

delay, which are the hallmarks of Kohlschütter–Tönz syndrome. [doi.org]

Arnold-Chiari Malformation

It is typically brought to light after a child begins exhibiting developmental delays and the parent seeks medical care. [neurosurgerycnj.com]

Developmental delays may require further medical follow up for underlying problems. [urmc.rochester.edu]

delays [neurosurgerycnj.com]

Vitamin B12 Deficiency

These patients can present with unexpected signs and symptoms, such as developmental delay and regression as in our patient. [ncbi.nlm.nih.gov]

Developmental delay or regression, pallor, skin hyperpigmentation, and sparse brown hair were present in all. [ncbi.nlm.nih.gov]

The most common symptoms of the patients were; infections in 30 %, pallor in 25 %, hypotonia and neuro-developmental delay in 25 %, refusal to solid food or to suck in 20 [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 3

It is characterized by behavioral changes, sleep disturbances and mental developmental delays. [icd10data.com]

Analyzes chromosomes in newborns and infants for changes that can explain certain birth defects or developmental delays. [integratedgenetics.com]

Patients usually present in infancy or early childhood with developmental delay, delayed speech, difficulty in feeding, hyperactivity or sleep disturbances. [genedx.com]

Classical Phenylketonuria

In addition to congenital anomalies and developmental delay, blond hair, fair skin and unusual urinary odor were noted. [ncbi.nlm.nih.gov]

Prognosis Worsening intellectual disability and developmental delay in infancy and childhood if untreated. [patient.info]

When the disease has progressed beyond early developmental stage without detection, there may be delayed mental and social developments. [news-medical.net]

Congenital Hypothyroidism

A 3-year-old girl had global developmental delay with dysmorphic facies. In addition, she was found to have congenital hypothyroidism. [ncbi.nlm.nih.gov]

A 24-year-old woman was admitted with general weakness, umbilical swelling, developmental delay, speech disorder, constipation, gait problem. [ncbi.nlm.nih.gov]

One of these infants had developmental delay despite rapid normalization of thyroid function postnatally. [ncbi.nlm.nih.gov]

Noonan Syndrome

This degree of developmental delay was atypical for an individual with Noonan syndrome, raising concerns for a chromosomal abnormality. [ncbi.nlm.nih.gov]

Noonan Syndrome is an autosomal dominant disorder characterized by short stature, congenital heart defects, developmental delay, dysmorphic facial features and occasional [ncbi.nlm.nih.gov]

Features include short stature, characteristic facies, congenital heart anomalies, and developmental delay. [ncbi.nlm.nih.gov]

Wolcott-Rallison Syndrome

Two sibs with an infantile onset of hyperglycemia, recurrent hepatitis, renal insufficiency, developmental delay, and skeletal epiphyseal dysplasia are described. [ncbi.nlm.nih.gov]

It is associated with liver dysfunction, epiphyseal dysplasia, and developmental delay. [ncbi.nlm.nih.gov]

Case 1 presented central hypothyroidism, developmental delay, and mild mental retardation. Case 2 presented a fatal episode of acute renal failure. [ncbi.nlm.nih.gov]

Krabbe Disease

The classic presentation includes excessive irritability, muscle hypertonicity, developmental delay, failure to thrive, peripheral neuropathy, seizures, and optic nerve atrophy [ncbi.nlm.nih.gov]

delay and intellectual disability Related to the degree of neurologic involvement, developmental delay and intellectual disability occur in 50-60% of patients with SWS; they [emedicine.medscape.com]

[…] regression, autism, leukodystrophies, epilepsy and developmental delays. [my.clevelandclinic.org]

Mucopolysaccharidosis Type 7

Cataracts Clouding of the corneas Developmental delay Enlarged spleen and liver Joint stiffness Hearing loss Heart and lung complications Short stature How many people have [ultrarareadvocacy.com]

In more severe cases, there may be developmental delay. The severe form of MPS 7 can uniquely present at birth with hydrops fetalis (severe generalized edema). [ultragenyx.com]

Affected individuals may have developmental delay and progressive intellectual disability, although intelligence is unaffected in some people with this condition. [ghr.nlm.nih.gov]

Achondroplasia

delay and acanthosis nigricans). [ncbi.nlm.nih.gov]

delay and acanthosis nigricans (SADDAN), and thanatophoric dysplasia (TD). [ncbi.nlm.nih.gov]

An 8-year-old female was diagnosed with a developmental delay, known as achondroplasia, seven months after birth. [ncbi.nlm.nih.gov]