Global developmental delay

What it is

Developmental delay is read from what a child can do at a given age. Four parts are gone through: language, fine motor, social and gross motor. The aim is to comment on what she can do and what she can't do, and two or three tools are enough for this; no need to use everything.

Causes and risk

A port-wine stain in the distribution of the trigeminal nerve is sporadic (somatic mosaic). Three problems seen in a child with this condition are developmental delay with epilepsy, intellectual abnormality, and glaucoma. Cerebral palsy heads the causes of developmental delay. It is a chronic disorder of muscle tone and movement due to a non-progressive injury to the developing brain; the events usually occur before, during or shortly after birth, most of it before birth, but the injury may be acquired later after head trauma or meningitis. The diagnosis cannot be made at birth. What makes it is motor delay and muscle stiffness, that is hypertonia or spasticity present in infancy, in a child who has not progressed. If only the legs are affected it is diplegia, arm and leg on one side is hemiplegia, all four limbs is quadriplegia. The others to hold beside it are metabolic disorder and neuromuscular disorder.

Infants with cerebral palsy may be floppy at birth and develop neonatal seizures, and the work up round it looks for TORCH, metabolic disease, malignancy, and congenital and genetic causes, that is CF, Down syndrome and the trisomies.

Prematurity has its own neurological set: periventricular leukomalacia, intraventricular hemorrhage, cerebral palsy, developmental delays, ADHD and learning disabilities.

Some constellations name their own syndrome.

• Difficulty with control of movement, small dilated blood vessels and developmental delay, that is ataxia with telangiectasia, is ataxia-telangiectasia syndrome.
• Congenital heart disease, developmental delay and dysmorphic facies with low-set ears, hypertelorism, down-turning eyes and micrognathia is DiGeorge syndrome, the 22q11 syndrome. The rest of its picture is truncus arteriosus, submucosal cleft palate, mild hearing loss, recurrent upper respiratory infections including hospitalization for respiratory syncytial virus, thymic hypoplasia on chest radiography, feeding difficulties as a neonate that needed nasogastric tube feeds, hooding of the upper eyelids, ocular hypertelorism, overfolded helices, a prominent nasal root with a nasal dimple or bifid nasal tip, and height at less than the 5th percentile. What such a child is most likely to present with is hypocalcemia, and not hypercalcemia, pancytopenia or thrombocytopenia.
• Failure to achieve head control at 6 months in a child who is not interactive, with sparse hair, a puffy face, cool extremities, an umbilical hernia and decreased deep tendon reflexes, is congenital hypothyroidism, and not congenital adrenal hyperplasia, Duchenne muscular dystrophy or achondroplasia.
• Severe developmental delay in a pedigree where only females transmit the disease, with no male carriers and no male transmission, is mitochondrial inheritance; with episodes of admission for seizures at 3 and 6 months, double hemiplegia, and severe acidosis during both admissions, the diagnosis is MELAS syndrome.
• Klinefelter syndrome carries possible developmental delay, with the onset of symptoms usually at the start of puberty, and it is one of the most common causes of male hypogonadism. Its incidence is about 1:650 in the US, and it is usually due to nondisjunction of the sex chromosomes during meiosis, associated with an advanced maternal age. The karyotype is 47,XXY, rarely 48,XXXY or 48,XXYY, and a Barr body is present. The phenotype is male, with tall stature and long extremities, reduced facial and body hair in a female body hair distribution, gynecomastia, mitral valve prolapse, testicular hypoplasia with reduced fertility, and osteoporosis.