The Analysis of Genetic Aberrations in Children with Inherited Neurometabolic and Neurodevelopmental Disorders

Table 2

The developmental and intellectual characteristics of enrolled patients.

Patient number	Development of gross motor skills	Development of fine motor skills	Speech and language development	Intellectual functioning	Autistic features
Patient 1	Abnormal motor coordination	Significant deficits in praxis and visual-motor coordination	Speech, especially active, not developed (single words or phrases, often the first syllable instead of the full word). Oral dyspraxia.	6 yr—nonverbal Leiter scale IQ-75; 11 yr and 13 yr—nonverbal scale of the WISC-R test IQ 52; 17 yr—nonverbal scale of the WISC-R test IQ 42	no
Patient 2	Gross motor function-clumsy, probably partly due to significant hypotonia	Fine motor skills-retarded: at age of 3 developed the pincer grasp	Active and passive speech delayed.; At age of 3—a few sounds (not naming objects, not imitating any sounds or words), communication using gestures.	Mental retardation with autistic features; symbolic play absent.	yes
Patient 3	Walked alone at the age of 26 mo.	Abnormal	Deficits of speech connected with hypoacusia and defective articulation	Cognitive development at 2 yr corresponding with the chronological age; symbolic play was present. 5 yr—nonverbal Leiter scale IQ-99	no
Patient 4	Began to walk alone in the third year of life-shaky, wide-based stance and gait	“Jerky movements” with reduced complexity, variability, and fluency.; Up to 5 yr of age no pincer grasp.	7 yr—total lack of spoken language, reacted to very simple commands.	ASD with profound mental retardation	Profound
Patient 5	Dystonia at 5 yr	Dystonia at 5 yr	Normal	Cognitive functions normal	no
Patient 6	Dystonia at 4 yr	Dystonia at 4 yr	Normal	Cognitive functions normal	no
Patient 7	Abnormal due to tetraparesis spastica	Abnormal due to tetraparesis spastica	Lack of development	Lack of development	no